BAFL_HUMAN
ID BAFL_HUMAN Reviewed; 90 AA.
AC Q9H503; D3DW25; F5H3F6; Q7Z4M6;
DT 02-AUG-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Barrier-to-autointegration factor-like protein;
DE Short=BAF-L;
DE AltName: Full=Barrier-to-autointegration factor 2;
GN Name=BANF2; Synonyms=BAFL, C20orf179;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=7829101; DOI=10.1006/geno.1994.1457;
RA Robertson N.G., Khetarpal U., Gutierrez-Espeleta G.A., Bieber F.R.,
RA Morton C.C.;
RT "Isolation of novel and known genes from a human fetal cochlear cDNA
RT library using subtractive hybridization and differential screening.";
RL Genomics 23:42-50(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ASP-3.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP CHARACTERIZATION, AND INTERACTION WITH BANF1.
RX PubMed=16337940; DOI=10.1016/j.yexcr.2005.11.013;
RA Tifft K.E., Segura-Totten M., Lee K.K., Wilson K.L.;
RT "Barrier-to-autointegration factor-like (BAF-L): a proposed regulator of
RT BAF.";
RL Exp. Cell Res. 312:478-487(2006).
CC -!- FUNCTION: May play a role in BANF1 regulation and influence tissue-
CC specific roles of BANF1.
CC -!- SUBUNIT: Homodimer. Heterodimerizes with BANF1.
CC -!- INTERACTION:
CC Q9H503-2; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-11977289, EBI-10173507;
CC Q9H503-2; O75531: BANF1; NbExp=3; IntAct=EBI-11977289, EBI-1055977;
CC Q9H503-2; Q9H503-2: BANF2; NbExp=3; IntAct=EBI-11977289, EBI-11977289;
CC Q9H503-2; Q8N7W2-2: BEND7; NbExp=3; IntAct=EBI-11977289, EBI-10181188;
CC Q9H503-2; P27918: CFP; NbExp=3; IntAct=EBI-11977289, EBI-9038570;
CC Q9H503-2; O43186: CRX; NbExp=3; IntAct=EBI-11977289, EBI-748171;
CC Q9H503-2; P05813: CRYBA1; NbExp=3; IntAct=EBI-11977289, EBI-7043337;
CC Q9H503-2; Q96D03: DDIT4L; NbExp=3; IntAct=EBI-11977289, EBI-742054;
CC Q9H503-2; Q8WXU2-2: DNAAF4; NbExp=3; IntAct=EBI-11977289, EBI-9381887;
CC Q9H503-2; Q9BVJ7: DUSP23; NbExp=3; IntAct=EBI-11977289, EBI-724940;
CC Q9H503-2; Q0VD86: INCA1; NbExp=3; IntAct=EBI-11977289, EBI-6509505;
CC Q9H503-2; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-11977289, EBI-11522433;
CC Q9H503-2; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-11977289, EBI-741158;
CC Q9H503-2; Q9NQX0: PRDM6; NbExp=3; IntAct=EBI-11977289, EBI-11320284;
CC Q9H503-2; P25786: PSMA1; NbExp=6; IntAct=EBI-11977289, EBI-359352;
CC Q9H503-2; Q9UHV2: SERTAD1; NbExp=3; IntAct=EBI-11977289, EBI-748601;
CC Q9H503-2; P15884-3: TCF4; NbExp=3; IntAct=EBI-11977289, EBI-13636688;
CC -!- SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H503-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H503-2; Sequence=VSP_046080;
CC -!- TISSUE SPECIFICITY: Expressed strongly in testis and pancreas. Also
CC detected in brain, colon, liver, lung, ovary, placenta, prostate, small
CC intestine, spleen and thymus. Not detected in heart, kidney and
CC skeletal muscle.
CC -!- SIMILARITY: Belongs to the BAF family. {ECO:0000305}.
CC -!- CAUTION: In contrast to BANF1, it does not seems to bind DNA.
CC {ECO:0000305}.
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DR EMBL; AW022487; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL132765; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL160071; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471133; EAX10271.1; -; Genomic_DNA.
DR EMBL; CH471133; EAX10272.1; -; Genomic_DNA.
DR EMBL; BC054871; AAH54871.1; -; mRNA.
DR EMBL; BC062735; AAH62735.1; -; mRNA.
DR CCDS; CCDS13129.1; -. [Q9H503-1]
DR CCDS; CCDS54449.1; -. [Q9H503-2]
DR RefSeq; NP_001014977.2; NM_001014977.3. [Q9H503-1]
DR RefSeq; NP_001152967.1; NM_001159495.1. [Q9H503-2]
DR RefSeq; NP_848572.3; NM_178477.4. [Q9H503-1]
DR RefSeq; XP_005260725.1; XM_005260668.3. [Q9H503-1]
DR AlphaFoldDB; Q9H503; -.
DR SMR; Q9H503; -.
DR BioGRID; 126728; 23.
DR CORUM; Q9H503; -.
DR IntAct; Q9H503; 16.
DR STRING; 9606.ENSP00000439128; -.
DR iPTMnet; Q9H503; -.
DR PhosphoSitePlus; Q9H503; -.
DR BioMuta; BANF2; -.
DR MassIVE; Q9H503; -.
DR PaxDb; Q9H503; -.
DR PeptideAtlas; Q9H503; -.
DR PRIDE; Q9H503; -.
DR ProteomicsDB; 26258; -.
DR ProteomicsDB; 80887; -. [Q9H503-1]
DR Antibodypedia; 48602; 20 antibodies from 10 providers.
DR DNASU; 140836; -.
DR Ensembl; ENST00000246090.6; ENSP00000246090.5; ENSG00000125888.15. [Q9H503-1]
DR Ensembl; ENST00000377805.7; ENSP00000367036.3; ENSG00000125888.15. [Q9H503-1]
DR Ensembl; ENST00000545418.2; ENSP00000439128.1; ENSG00000125888.15. [Q9H503-2]
DR GeneID; 140836; -.
DR KEGG; hsa:140836; -.
DR MANE-Select; ENST00000246090.6; ENSP00000246090.5; NM_178477.5; NP_848572.3.
DR UCSC; uc002wpz.3; human. [Q9H503-1]
DR CTD; 140836; -.
DR DisGeNET; 140836; -.
DR GeneCards; BANF2; -.
DR HGNC; HGNC:16172; BANF2.
DR HPA; ENSG00000125888; Tissue enriched (testis).
DR neXtProt; NX_Q9H503; -.
DR OpenTargets; ENSG00000125888; -.
DR PharmGKB; PA162377348; -.
DR VEuPathDB; HostDB:ENSG00000125888; -.
DR eggNOG; KOG4233; Eukaryota.
DR GeneTree; ENSGT00940000162003; -.
DR HOGENOM; CLU_167806_0_0_1; -.
DR InParanoid; Q9H503; -.
DR OMA; CWVDGVS; -.
DR OrthoDB; 1617480at2759; -.
DR PhylomeDB; Q9H503; -.
DR TreeFam; TF315060; -.
DR PathwayCommons; Q9H503; -.
DR SignaLink; Q9H503; -.
DR BioGRID-ORCS; 140836; 12 hits in 1061 CRISPR screens.
DR GenomeRNAi; 140836; -.
DR Pharos; Q9H503; Tdark.
DR PRO; PR:Q9H503; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9H503; protein.
DR Bgee; ENSG00000125888; Expressed in left testis and 99 other tissues.
DR ExpressionAtlas; Q9H503; baseline and differential.
DR Genevisible; Q9H503; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005654; C:nucleoplasm; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0003677; F:DNA binding; IBA:GO_Central.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0030261; P:chromosome condensation; IBA:GO_Central.
DR GO; GO:0007059; P:chromosome segregation; IBA:GO_Central.
DR Gene3D; 1.10.150.40; -; 1.
DR InterPro; IPR004122; BAF_prot.
DR InterPro; IPR036617; BAF_sf.
DR PANTHER; PTHR12912; PTHR12912; 1.
DR Pfam; PF02961; BAF; 1.
DR SMART; SM01023; BAF; 1.
DR SUPFAM; SSF47798; SSF47798; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Nucleus; Reference proteome.
FT CHAIN 1..90
FT /note="Barrier-to-autointegration factor-like protein"
FT /id="PRO_0000221030"
FT VAR_SEQ 1
FT /note="M -> MLRGTKEM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:7829101"
FT /id="VSP_046080"
FT VARIANT 3
FT /note="N -> D (in dbSNP:rs4814640)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_024372"
FT VARIANT 78
FT /note="T -> S (in dbSNP:rs1053993)"
FT /id="VAR_013693"
SQ SEQUENCE 90 AA; 10309 MW; C7FAB57610ADEF87 CRC64;
MDNMSPRLRA FLSEPIGEKD VCWVDGISHE LAINLVTKGI NKAYILLGQF LLMHKNEAEF
QRWLICCFGA TECEAQQTSH CLKEWCACFL
