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Homeobox protein Hox-A1 (Homeobox protein Hox-1F)

 HXA1_HUMAN              Reviewed;         335 AA.
P49639; A4D184; B2R8U7; O43363;
01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
15-JUL-1999, sequence version 2.
31-JAN-2018, entry version 181.
RecName: Full=Homeobox protein Hox-A1;
AltName: Full=Homeobox protein Hox-1F;
Name=HOXA1; Synonyms=HOX1F;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
TISSUE=Ovary;
PubMed=7622051; DOI=10.1016/0378-1119(95)92712-G;
Hong Y.S., Kim S.Y., Bhattacharya A., Pratt D.R., Hong W.K.,
Tainsky M.A.;
"Structure and function of the HOX A1 human homeobox gene cDNA.";
Gene 159:209-214(1995).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT
ARG-73.
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=12690205; DOI=10.1126/science.1083423;
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
Kanematsu E., Gentles S., Christopoulos C.C., Choufani S.,
Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z.,
Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C.,
Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J.,
Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F.,
Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F.,
Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H.,
Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G.,
Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P.,
Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J.,
Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F.,
Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B.,
Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W.,
Mural R.J., Adams M.D., Tsui L.-C.;
"Human chromosome 7: DNA sequence and biology.";
Science 300:767-772(2003).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=12853948; DOI=10.1038/nature01782;
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R.,
Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E.,
Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H.,
Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A.,
Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J.,
Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A.,
Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S.,
Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M.,
Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C.,
Latreille P., Miller N., Johnson D., Murray J., Woessner J.P.,
Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J.,
Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L.,
Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R.,
Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K.,
Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S.,
Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M.,
Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R.,
Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D.,
Waterston R.H., Wilson R.K.;
"The DNA sequence of human chromosome 7.";
Nature 424:157-164(2003).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
TISSUE=Skin;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
NUCLEOTIDE SEQUENCE [MRNA] OF 6-335 (ISOFORMS 1; 2 AND 3).
PubMed=7488013; DOI=10.1006/bbrc.1995.2522;
Chariot A., Moreau L., Senterre G., Sobel M., Castronovo V.;
"Retinoic acid induces three newly cloned HOXA1 transcripts in MCF7
breast cancer cells.";
Biochem. Biophys. Res. Commun. 215:713-720(1995).
[8]
VARIANT ARG-73.
PubMed=11091361;
DOI=10.1002/1096-9926(200012)62:6<393::AID-TERA6>3.3.CO;2-M;
Ingram J.L., Stodgell C.J., Hyman S.L., Figlewicz D.A., Weitkamp L.R.,
Rodier P.M.;
"Discovery of allelic variants of HOXA1 and HOXB1: genetic
susceptibility to autism spectrum disorders.";
Teratology 62:393-405(2000).
[9]
INVOLVEMENT IN ABDS AND BSAS.
PubMed=16155570; DOI=10.1038/ng1636;
Tischfield M.A., Bosley T.M., Salih M.A.M., Alorainy I.A., Sener E.C.,
Nester M.J., Oystreck D.T., Chan W.-M., Andrews C., Erickson R.P.,
Engle E.C.;
"Homozygous HOXA1 mutations disrupt human brainstem, inner ear,
cardiovascular and cognitive development.";
Nat. Genet. 37:1035-1037(2005).
-!- FUNCTION: Sequence-specific transcription factor which is part of
a developmental regulatory system that provides cells with
specific positional identities on the anterior-posterior axis.
Acts on the anterior body structures. Seems to act in the
maintenance and/or generation of hindbrain segments.
-!- INTERACTION:
Self; NbExp=4; IntAct=EBI-740785, EBI-740785;
Q6UY14-3:ADAMTSL4; NbExp=7; IntAct=EBI-740785, EBI-10173507;
Q9NP73-4:ALG13; NbExp=3; IntAct=EBI-740785, EBI-10186621;
P05187:ALPP; NbExp=4; IntAct=EBI-740785, EBI-1211484;
Q9Y4X0-3:AMMECR1; NbExp=4; IntAct=EBI-740785, EBI-12823597;
Q9H2G9:BLZF1; NbExp=5; IntAct=EBI-740785, EBI-2548012;
J3KQ12:BSCL2; NbExp=4; IntAct=EBI-740785, EBI-11532900;
Q5T4B2:CERCAM; NbExp=4; IntAct=EBI-740785, EBI-12261896;
Q9UKJ5:CHIC2; NbExp=3; IntAct=EBI-740785, EBI-741528;
Q9H2X0:CHRD; NbExp=3; IntAct=EBI-740785, EBI-947551;
Q9BYD5:CNFN; NbExp=4; IntAct=EBI-740785, EBI-12819063;
P27658:COL8A1; NbExp=4; IntAct=EBI-740785, EBI-747133;
A8MQ03:CYSRT1; NbExp=4; IntAct=EBI-740785, EBI-3867333;
Q86UW9:DTX2; NbExp=4; IntAct=EBI-740785, EBI-740376;
A4D161:FAM221A; NbExp=6; IntAct=EBI-740785, EBI-11960181;
O15353:FOXN1; NbExp=4; IntAct=EBI-740785, EBI-11319000;
P15976:GATA1; NbExp=3; IntAct=EBI-740785, EBI-3909284;
P14770:GP9; NbExp=5; IntAct=EBI-740785, EBI-1754109;
P28799:GRN; NbExp=9; IntAct=EBI-740785, EBI-747754;
Q15486:GUSBP1; NbExp=6; IntAct=EBI-740785, EBI-712457;
P09022:Hoxa1 (xeno); NbExp=4; IntAct=EBI-740785, EBI-3957603;
Q0VD86:INCA1; NbExp=4; IntAct=EBI-740785, EBI-6509505;
Q5T749:KPRP; NbExp=4; IntAct=EBI-740785, EBI-10981970;
Q15323:KRT31; NbExp=5; IntAct=EBI-740785, EBI-948001;
O76014:KRT37; NbExp=4; IntAct=EBI-740785, EBI-1045716;
O76015:KRT38; NbExp=5; IntAct=EBI-740785, EBI-1047263;
Q6A162:KRT40; NbExp=3; IntAct=EBI-740785, EBI-10171697;
P78385:KRT83; NbExp=4; IntAct=EBI-740785, EBI-10221390;
Q07627:KRTAP1-1; NbExp=4; IntAct=EBI-740785, EBI-11959885;
Q9BYS1:KRTAP1-5; NbExp=4; IntAct=EBI-740785, EBI-11741292;
P60412:KRTAP10-11; NbExp=9; IntAct=EBI-740785, EBI-10217483;
P60370:KRTAP10-5; NbExp=5; IntAct=EBI-740785, EBI-10172150;
P60410:KRTAP10-8; NbExp=7; IntAct=EBI-740785, EBI-10171774;
P60411:KRTAP10-9; NbExp=9; IntAct=EBI-740785, EBI-10172052;
P59990:KRTAP12-1; NbExp=9; IntAct=EBI-740785, EBI-10210845;
P59991:KRTAP12-2; NbExp=3; IntAct=EBI-740785, EBI-10176379;
P60328:KRTAP12-3; NbExp=4; IntAct=EBI-740785, EBI-11953334;
P60329:KRTAP12-4; NbExp=7; IntAct=EBI-740785, EBI-10176396;
Q9BYR9:KRTAP2-4; NbExp=4; IntAct=EBI-740785, EBI-14065470;
Q6PEX3:KRTAP26-1; NbExp=5; IntAct=EBI-740785, EBI-3957672;
Q9BYR7:KRTAP3-2; NbExp=5; IntAct=EBI-740785, EBI-751260;
Q9BYQ6:KRTAP4-11; NbExp=5; IntAct=EBI-740785, EBI-10302392;
Q9BQ66:KRTAP4-12; NbExp=6; IntAct=EBI-740785, EBI-739863;
Q9BYR5:KRTAP4-2; NbExp=7; IntAct=EBI-740785, EBI-10172511;
Q9BYR0:KRTAP4-7; NbExp=3; IntAct=EBI-740785, EBI-10302547;
Q6L8G9:KRTAP5-6; NbExp=9; IntAct=EBI-740785, EBI-10250562;
P26371:KRTAP5-9; NbExp=9; IntAct=EBI-740785, EBI-3958099;
Q3LI66:KRTAP6-2; NbExp=4; IntAct=EBI-740785, EBI-11962084;
Q9BYQ4:KRTAP9-2; NbExp=9; IntAct=EBI-740785, EBI-1044640;
Q9BYQ3:KRTAP9-3; NbExp=4; IntAct=EBI-740785, EBI-1043191;
Q9BYQ2:KRTAP9-4; NbExp=3; IntAct=EBI-740785, EBI-10185730;
Q9BYQ0:KRTAP9-8; NbExp=4; IntAct=EBI-740785, EBI-11958364;
Q5T7P2:LCE1A; NbExp=4; IntAct=EBI-740785, EBI-11962058;
Q5T7P3:LCE1B; NbExp=7; IntAct=EBI-740785, EBI-10245913;
Q5T754:LCE1F; NbExp=4; IntAct=EBI-740785, EBI-11958008;
Q5TA81:LCE2C; NbExp=4; IntAct=EBI-740785, EBI-11973993;
Q5TA82:LCE2D; NbExp=4; IntAct=EBI-740785, EBI-10246750;
Q5T5B0:LCE3E; NbExp=3; IntAct=EBI-740785, EBI-10245456;
Q5TA78:LCE4A; NbExp=7; IntAct=EBI-740785, EBI-10246358;
Q5TCM9:LCE5A; NbExp=4; IntAct=EBI-740785, EBI-11955689;
Q9UHV8:LGALS13; NbExp=5; IntAct=EBI-740785, EBI-3957707;
Q99750:MDFI; NbExp=3; IntAct=EBI-740785, EBI-724076;
Q92802:N4BP2L2; NbExp=3; IntAct=EBI-740785, EBI-2514973;
Q7Z3S9:NOTCH2NL; NbExp=5; IntAct=EBI-740785, EBI-945833;
Q6NSM0:NR1D2; NbExp=4; IntAct=EBI-740785, EBI-10250949;
P40425:PBX2; NbExp=3; IntAct=EBI-740785, EBI-348489;
Q13526:PIN1; NbExp=4; IntAct=EBI-740785, EBI-714158;
P04156:PRNP; NbExp=4; IntAct=EBI-740785, EBI-977302;
O75360:PROP1; NbExp=4; IntAct=EBI-740785, EBI-9027467;
Q93062:RBPMS; NbExp=3; IntAct=EBI-740785, EBI-740322;
Q9UGC6:RGS17; NbExp=7; IntAct=EBI-740785, EBI-3918154;
O76081:RGS20; NbExp=3; IntAct=EBI-740785, EBI-1052678;
O76081-6:RGS20; NbExp=3; IntAct=EBI-740785, EBI-10178530;
O00560:SDCBP; NbExp=5; IntAct=EBI-740785, EBI-727004;
O43609:SPRY1; NbExp=7; IntAct=EBI-740785, EBI-3866665;
O43463:SUV39H1; NbExp=2; IntAct=EBI-740785, EBI-349968;
Q8IV04:TBC1D10C; NbExp=5; IntAct=EBI-740785, EBI-10261452;
Q8N5G2:TMEM57; NbExp=4; IntAct=EBI-740785, EBI-2683507;
Q13077:TRAF1; NbExp=3; IntAct=EBI-740785, EBI-359224;
Q8IWZ5:TRIM42; NbExp=10; IntAct=EBI-740785, EBI-5235829;
O14817:TSPAN4; NbExp=4; IntAct=EBI-740785, EBI-8652667;
Q2TAL6:VWC2; NbExp=4; IntAct=EBI-740785, EBI-11957238;
B2RUY7:VWC2L; NbExp=4; IntAct=EBI-740785, EBI-11747707;
Q9NZC7-5:WWOX; NbExp=4; IntAct=EBI-740785, EBI-12040603;
-!- SUBCELLULAR LOCATION: Nucleus.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=3; Synonyms=36 kDa;
IsoId=P49639-1; Sequence=Displayed;
Name=1; Synonyms=14 kDa;
IsoId=P49639-2; Sequence=VSP_002376, VSP_002377;
Note=Lacks the homeobox domain.;
Name=2; Synonyms=24 kDa;
IsoId=P49639-3; Sequence=VSP_002378, VSP_002379;
Note=Lacks the homeobox domain.;
-!- DISEASE: Athabaskan brainstem dysgenesis syndrome (ABDS)
[MIM:601536]: Characterized by horizontal gaze palsy,
sensorineural deafness, central hypoventilation, and developmental
delay. Some patients had swallowing dysfunction, vocal cord
paralysis, facial paresis, seizures, and cardiac outflow tract
anomalies. {ECO:0000269|PubMed:16155570}. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- DISEASE: Bosley-Salih-Alorainy syndrome (BSAS) [MIM:601536]: A
disease characterized by horizontal gaze abnormalities, deafness,
facial weakness, vascular malformations of the internal carotid
arteries and cardiac outflow trac. Some patients manifest mental
retardation and autism spectrum disorder. Affected individuals do
not suffer from central hypoventilation. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the Antp homeobox family. Labial subfamily.
{ECO:0000305}.
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EMBL; U10421; AAA86954.1; -; mRNA.
EMBL; AK313514; BAG36294.1; -; mRNA.
EMBL; AC004079; AAS00374.1; -; Genomic_DNA.
EMBL; CH236948; EAL24228.1; -; Genomic_DNA.
EMBL; CH471073; EAW93861.1; -; Genomic_DNA.
EMBL; BC032547; AAH32547.1; -; mRNA.
EMBL; U37431; AAC50248.1; -; mRNA.
EMBL; U37431; AAC50249.1; -; mRNA.
EMBL; U37431; AAC50250.1; -; mRNA.
EMBL; S79869; AAB35424.2; -; mRNA.
EMBL; S79871; AAB35425.1; -; mRNA.
EMBL; S79910; AAB35423.2; -; mRNA.
CCDS; CCDS5401.1; -. [P49639-1]
CCDS; CCDS5402.2; -. [P49639-2]
PIR; G01448; G01448.
RefSeq; NP_005513.1; NM_005522.4. [P49639-1]
RefSeq; NP_705873.2; NM_153620.2. [P49639-2]
UniGene; Hs.67397; -.
ProteinModelPortal; P49639; -.
SMR; P49639; -.
BioGrid; 109438; 67.
ELM; P49639; -.
IntAct; P49639; 243.
MINT; MINT-1437157; -.
STRING; 9606.ENSP00000343246; -.
iPTMnet; P49639; -.
PhosphoSitePlus; P49639; -.
BioMuta; HOXA1; -.
DMDM; 6166216; -.
PaxDb; P49639; -.
PeptideAtlas; P49639; -.
PRIDE; P49639; -.
DNASU; 3198; -.
Ensembl; ENST00000343060; ENSP00000343246; ENSG00000105991.
GeneID; 3198; -.
KEGG; hsa:3198; -.
UCSC; uc003sye.4; human. [P49639-1]
CTD; 3198; -.
DisGeNET; 3198; -.
EuPathDB; HostDB:ENSG00000105991.7; -.
GeneCards; HOXA1; -.
HGNC; HGNC:5099; HOXA1.
MalaCards; HOXA1; -.
MIM; 142955; gene.
MIM; 601536; phenotype.
neXtProt; NX_P49639; -.
Orphanet; 69739; Athabaskan brainstem dysgenesis syndrome.
Orphanet; 69737; Bosley-Salih-Alorainy syndrome.
PharmGKB; PA29376; -.
eggNOG; KOG0489; Eukaryota.
eggNOG; ENOG410ZTBY; LUCA.
HOGENOM; HOG000247020; -.
HOVERGEN; HBG006089; -.
InParanoid; P49639; -.
KO; K09301; -.
OrthoDB; EOG091G0LR2; -.
PhylomeDB; P49639; -.
TreeFam; TF317730; -.
Reactome; R-HSA-5617472; Activation of anterior HOX genes in hindbrain development during early embryogenesis.
SIGNOR; P49639; -.
GeneWiki; Homeobox_A1; -.
GenomeRNAi; 3198; -.
PRO; PR:P49639; -.
Proteomes; UP000005640; Chromosome 7.
Bgee; ENSG00000105991; -.
CleanEx; HS_HOXA1; -.
ExpressionAtlas; P49639; baseline and differential.
Genevisible; P49639; HS.
GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
GO; GO:0042802; F:identical protein binding; IPI:IntAct.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0001228; F:transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding; IC:NTNU_SB.
GO; GO:0021599; P:abducens nerve formation; IMP:DFLAT.
GO; GO:0009653; P:anatomical structure morphogenesis; IMP:DFLAT.
GO; GO:0060840; P:artery development; IMP:DFLAT.
GO; GO:0048844; P:artery morphogenesis; IMP:DFLAT.
GO; GO:0090102; P:cochlea development; IMP:DFLAT.
GO; GO:0090103; P:cochlea morphogenesis; IMP:DFLAT.
GO; GO:0050890; P:cognition; IDA:DFLAT.
GO; GO:0048702; P:embryonic neurocranium morphogenesis; IMP:DFLAT.
GO; GO:0048839; P:inner ear development; IMP:DFLAT.
GO; GO:0007275; P:multicellular organism development; TAS:ProtInc.
GO; GO:0050905; P:neuromuscular process; IDA:DFLAT.
GO; GO:0007634; P:optokinetic behavior; IDA:DFLAT.
GO; GO:0042473; P:outer ear morphogenesis; IDA:DFLAT.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:NTNU_SB.
GO; GO:0050795; P:regulation of behavior; IDA:DFLAT.
GO; GO:0060876; P:semicircular canal formation; IMP:DFLAT.
GO; GO:0007605; P:sensory perception of sound; IDA:DFLAT.
CDD; cd00086; homeodomain; 1.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR017970; Homeobox_CS.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR020479; Homeobox_metazoa.
Pfam; PF00046; Homeobox; 1.
PRINTS; PR00024; HOMEOBOX.
SMART; SM00389; HOX; 1.
SUPFAM; SSF46689; SSF46689; 1.
PROSITE; PS00027; HOMEOBOX_1; 1.
PROSITE; PS50071; HOMEOBOX_2; 1.
1: Evidence at protein level;
Alternative splicing; Autism spectrum disorder; Complete proteome;
Developmental protein; DNA-binding; Homeobox; Nucleus; Polymorphism;
Reference proteome; Transcription; Transcription regulation.
CHAIN 1 335 Homeobox protein Hox-A1.
/FTId=PRO_0000200030.
DNA_BIND 229 288 Homeobox. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
MOTIF 204 209 Antp-type hexapeptide.
COMPBIAS 65 74 Poly-His.
COMPBIAS 142 146 Poly-His.
COMPBIAS 314 317 Poly-Ser.
VAR_SEQ 119 137 VSGGYPQCAPAVYSGNLSS -> PPRSLSLPRIGDIFSSAD
F (in isoform 1).
{ECO:0000303|PubMed:7488013}.
/FTId=VSP_002376.
VAR_SEQ 138 335 Missing (in isoform 1).
{ECO:0000303|PubMed:7488013}.
/FTId=VSP_002377.
VAR_SEQ 219 227 KVGEYGYLG -> QSCWLVDAP (in isoform 2).
{ECO:0000303|PubMed:7488013}.
/FTId=VSP_002378.
VAR_SEQ 228 335 Missing (in isoform 2).
{ECO:0000303|PubMed:7488013}.
/FTId=VSP_002379.
VARIANT 73 73 H -> R (frequent polymorphism in
individuals of European or African
origin; dbSNP:rs10951154).
{ECO:0000269|PubMed:11091361,
ECO:0000269|PubMed:14702039}.
/FTId=VAR_010305.
VARIANT 189 189 E -> A (in dbSNP:rs17500494).
/FTId=VAR_030576.
SEQUENCE 335 AA; 36641 MW; 3C3A2D0A59A4181C CRC64;
MDNARMNSFL EYPILSSGDS GTCSARAYPS DHRITTFQSC AVSANSCGGD DRFLVGRGVQ
IGSPHHHHHH HHHHPQPATY QTSGNLGVSY SHSSCGPSYG SQNFSAPYSP YALNQEADVS
GGYPQCAPAV YSGNLSSPMV QHHHHHQGYA GGAVGSPQYI HHSYGQEHQS LALATYNNSL
SPLHASHQEA CRSPASETSS PAQTFDWMKV KRNPPKTGKV GEYGYLGQPN AVRTNFTTKQ
LTELEKEFHF NKYLTRARRV EIAASLQLNE TQVKIWFQNR RMKQKKREKE GLLPISPATP
PGNDEKAEES SEKSSSSPCV PSPGSSTSDT LTTSH


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