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Barrier-to-autointegration factor-like protein (BAF-L) (Barrier-to-autointegration factor 2)

 BAFL_HUMAN              Reviewed;          90 AA.
Q9H503; D3DW25; F5H3F6; Q7Z4M6;
02-AUG-2002, integrated into UniProtKB/Swiss-Prot.
01-MAR-2001, sequence version 1.
22-NOV-2017, entry version 122.
RecName: Full=Barrier-to-autointegration factor-like protein;
Short=BAF-L;
AltName: Full=Barrier-to-autointegration factor 2;
Name=BANF2; Synonyms=BAFL, C20orf179;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
PubMed=7829101; DOI=10.1006/geno.1994.1457;
Robertson N.G., Khetarpal U., Gutierrez-Espeleta G.A., Bieber F.R.,
Morton C.C.;
"Isolation of novel and known genes from a human fetal cochlear cDNA
library using subtractive hybridization and differential screening.";
Genomics 23:42-50(1994).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=11780052; DOI=10.1038/414865a;
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M.,
Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J.,
Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P.,
Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M.,
Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R.,
Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M.,
Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H.,
Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S.,
Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E.,
Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A.,
Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M.,
Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A.,
Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S.,
Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 20.";
Nature 414:865-871(2001).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ASP-3.
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Testis;
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).
[5]
CHARACTERIZATION, AND INTERACTION WITH BANF1.
PubMed=16337940; DOI=10.1016/j.yexcr.2005.11.013;
Tifft K.E., Segura-Totten M., Lee K.K., Wilson K.L.;
"Barrier-to-autointegration factor-like (BAF-L): a proposed regulator
of BAF.";
Exp. Cell Res. 312:478-487(2006).
-!- FUNCTION: May play a role in BANF1 regulation and influence
tissue-specific roles of BANF1.
-!- SUBUNIT: Homodimer. Heterodimerizes with BANF1.
-!- INTERACTION:
Q9UHV2:SERTAD1; NbExp=4; IntAct=EBI-11977289, EBI-748601;
-!- SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q9H503-1; Sequence=Displayed;
Name=2;
IsoId=Q9H503-2; Sequence=VSP_046080;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Expressed strongly in testis and pancreas.
Also detected in brain, colon, liver, lung, ovary, placenta,
prostate, small intestine, spleen and thymus. Not detected in
heart, kidney and skeletal muscle.
-!- SIMILARITY: Belongs to the BAF family. {ECO:0000305}.
-!- CAUTION: In contrast to BANF1, it does not seems to bind DNA.
{ECO:0000305}.
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EMBL; AW022487; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; AL132765; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL160071; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471133; EAX10271.1; -; Genomic_DNA.
EMBL; CH471133; EAX10272.1; -; Genomic_DNA.
EMBL; BC054871; AAH54871.1; -; mRNA.
EMBL; BC062735; AAH62735.1; -; mRNA.
CCDS; CCDS13129.1; -. [Q9H503-1]
CCDS; CCDS54449.1; -. [Q9H503-2]
RefSeq; NP_001014977.2; NM_001014977.3. [Q9H503-1]
RefSeq; NP_001152967.1; NM_001159495.1. [Q9H503-2]
RefSeq; NP_848572.3; NM_178477.4. [Q9H503-1]
RefSeq; XP_005260725.1; XM_005260668.3. [Q9H503-1]
UniGene; Hs.115366; -.
ProteinModelPortal; Q9H503; -.
SMR; Q9H503; -.
CORUM; Q9H503; -.
IntAct; Q9H503; 15.
STRING; 9606.ENSP00000439128; -.
iPTMnet; Q9H503; -.
PhosphoSitePlus; Q9H503; -.
BioMuta; BANF2; -.
PaxDb; Q9H503; -.
PeptideAtlas; Q9H503; -.
PRIDE; Q9H503; -.
Ensembl; ENST00000246090; ENSP00000246090; ENSG00000125888. [Q9H503-1]
Ensembl; ENST00000377805; ENSP00000367036; ENSG00000125888. [Q9H503-1]
Ensembl; ENST00000545418; ENSP00000439128; ENSG00000125888. [Q9H503-2]
GeneID; 140836; -.
KEGG; hsa:140836; -.
UCSC; uc002wpz.3; human. [Q9H503-1]
CTD; 140836; -.
DisGeNET; 140836; -.
EuPathDB; HostDB:ENSG00000125888.14; -.
GeneCards; BANF2; -.
HGNC; HGNC:16172; BANF2.
HPA; HPA042635; -.
neXtProt; NX_Q9H503; -.
OpenTargets; ENSG00000125888; -.
PharmGKB; PA162377348; -.
eggNOG; KOG4233; Eukaryota.
eggNOG; ENOG4111URU; LUCA.
GeneTree; ENSGT00390000018613; -.
HOGENOM; HOG000231927; -.
HOVERGEN; HBG029345; -.
InParanoid; Q9H503; -.
OMA; CCGATEC; -.
OrthoDB; EOG091G109J; -.
PhylomeDB; Q9H503; -.
TreeFam; TF315060; -.
GenomeRNAi; 140836; -.
PRO; PR:Q9H503; -.
Proteomes; UP000005640; Chromosome 20.
Bgee; ENSG00000125888; -.
CleanEx; HS_BANF2; -.
ExpressionAtlas; Q9H503; baseline and differential.
Genevisible; Q9H503; HS.
GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0003677; F:DNA binding; IEA:InterPro.
Gene3D; 1.10.150.40; -; 1.
InterPro; IPR004122; BAF_prot.
InterPro; IPR036617; BAF_sf.
PANTHER; PTHR12912; PTHR12912; 1.
Pfam; PF02961; BAF; 1.
ProDom; PD019964; PD019964; 1.
SMART; SM01023; BAF; 1.
SUPFAM; SSF47798; SSF47798; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Cytoplasm; Nucleus;
Polymorphism; Reference proteome.
CHAIN 1 90 Barrier-to-autointegration factor-like
protein.
/FTId=PRO_0000221030.
VAR_SEQ 1 1 M -> MLRGTKEM (in isoform 2).
{ECO:0000303|PubMed:7829101}.
/FTId=VSP_046080.
VARIANT 3 3 N -> D (in dbSNP:rs4814640).
{ECO:0000269|Ref.3}.
/FTId=VAR_024372.
VARIANT 78 78 T -> S (in dbSNP:rs1053993).
/FTId=VAR_013693.
SEQUENCE 90 AA; 10309 MW; C7FAB57610ADEF87 CRC64;
MDNMSPRLRA FLSEPIGEKD VCWVDGISHE LAINLVTKGI NKAYILLGQF LLMHKNEAEF
QRWLICCFGA TECEAQQTSH CLKEWCACFL


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