Q9NWV8 (BABA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
BRISC and BRCA1-A complex member 1

Alternative name(s):
Mediator of RAP80 interactions and targeting subunit of 40 kDa
New component of the BRCA1-A complex

Gene names

Name:	BABAM1
Synonyms:	C19orf62, MERIT40, NBA1
ORF Names:	HSPC142

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	329 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it is required for the complex integrity and its localization at DSBs. Probably also plays a role as a component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin. In these 2 complexes, it is probably required to maintain the stability of BRE/BRCC45 and help the 'Lys-63'-linked deubiquitinase activity mediated by BRCC3/BRCC36 component. Ref.11 Ref.12 Ref.13
Subunit structure	Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. In the BRCA1-A complex, interacts directly with FAM175A/Abraxas and BRE/BRCC45. Component of the BRISC complex, at least composed of the FAM175B/ABRO1, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. Ref.10 Ref.11 Ref.12 Ref.13
Subcellular location	Cytoplasm. Nucleus. Note: Localizes at sites of DNA damage at double-strand breaks (DSBs). Ref.11 Ref.12 Ref.13
Domain	The VWFA-like region is similar to the VWFA domain. Its presence reveals similarities between the structure of the 19S proteasome and the BRCA1-A complexes. Ref.12
Sequence similarities	Belongs to the BABAM1 family.
Sequence caution	The sequence AAF29106.1 differs from that shown. Reason: Frameshift at position 263.

Ontologies

Keywords
Biological process	DNA damage DNA repair
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing
Molecular function	Chromatin regulator
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	G2 DNA damage checkpoint Inferred from mutant phenotype Ref.11Ref.13Ref.12. Source: UniProtKB chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW double-strand break repair Inferred from mutant phenotype Ref.11Ref.13Ref.12. Source: UniProtKB positive regulation of DNA repair Inferred from mutant phenotype Ref.11Ref.13Ref.12. Source: UniProtKB protein K63-linked deubiquitination Inferred from mutant phenotype Ref.11. Source: UniProtKB response to ionizing radiation Inferred from mutant phenotype Ref.13Ref.12. Source: UniProtKB
Cellular_component	BRCA1-A complex Inferred from direct assay Ref.11Ref.13Ref.12. Source: UniProtKB BRISC complex Inferred from direct assay Ref.10. Source: UniProtKB cytoplasm Inferred from direct assay Ref.12. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BRE	Q9NXR7	3	EBI-745725,EBI-949389
TNKS2	Q9H2K2	4	EBI-745725,EBI-4398527

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NWV8-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9NWV8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-115: MEVAEPSSPT...SLPKLESFNG → MMGASTLQEP...HHGSTVQRKC
     263-329: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q9NWV8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     116-190: Missing.
     234-329: KMFQCPYFFF...DEAIEVEATV → VGEAWEREGCLQP

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 329	329	BRISC and BRCA1-A complex member 1		PRO_0000288458
Regions
	Region	95 – 298	204	VWFA-like
Amino acid modifications
	Modified residue	1	1	N-acetylmethionine Ref.15 Ref.17
	Modified residue	29	1	Phosphoserine Ref.14
	Modified residue	49	1	Phosphoserine Ref.9 Ref.14 Ref.17
	Modified residue	62	1	Phosphoserine Ref.8
	Modified residue	65	1	Phosphothreonine Ref.14
	Modified residue	66	1	Phosphoserine Ref.9 Ref.14
Natural variations
	Alternative sequence	1 – 115	115	MEVAE…ESFNG → MMGASTLQEPALSPGRCPRQ PLRSKFGHHGSTVQRKC in isoform 2.		VSP_037246
	Alternative sequence	116 – 190	75	Missing in isoform 3.		VSP_037247
	Alternative sequence	234 – 329	96	KMFQC…VEATV → VGEAWEREGCLQP in isoform 3.		VSP_037248
	Alternative sequence	263 – 329	67	Missing in isoform 2.		VSP_037249
Experimental info
	Sequence conflict	76	1	P → S in CAG38557. Ref.4
	Sequence conflict	288	1	A → V in CAG38557. Ref.4
	Sequence conflict	302	1	P → S in CAG38557. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 7A84D8EE6D03C1DB	FASTA	329	36,560
	10 20 30 40 50 60 MEVAEPSSPT EEEEEEEEHS AEPRPRTRSN PEGAEDRAVG AQASVGSRSE GEGEAASADD 70 80 90 100 110 120 GSLNTSGAGP KSWQVPPPAP EVQIRTPRVN CPEKVIICLD LSEEMSLPKL ESFNGSKTNA 130 140 150 160 170 180 LNVSQKMIEM FVRTKHKIDK SHEFALVVVN DDTAWLSGLT SDPRELCSCL YDLETASCST 190 200 210 220 230 240 FNLEGLFSLI QQKTELPVTE NVQTIPPPYV VRTILVYSRP PCQPQFSLTE PMKKMFQCPY 250 260 270 280 290 300 FFFDVVYIHN GTEEKEEEMS WKDMFAFMGS LDTKGTSYKY EVALAGPALE LHNCMAKLLA 310 320 HPLQRPCQSH ASYSLLEEED EAIEVEATV
	Isoform 2 [UniParc]. Checksum: FC1769F1757DAC76	FASTA	184	21,028
	10 20 30 40 50 60 MMGASTLQEP ALSPGRCPRQ PLRSKFGHHG STVQRKCSKT NALNVSQKMI EMFVRTKHKI 70 80 90 100 110 120 DKSHEFALVV VNDDTAWLSG LTSDPRELCS CLYDLETASC STFNLEGLFS LIQQKTELPV 130 140 150 160 170 180 TENVQTIPPP YVVRTILVYS RPPCQPQFSL TEPMKKMFQC PYFFFDVVYI HNGTEEKEEE MSWK
	Isoform 3 [UniParc]. Checksum: 1848B7FE13066DF1	FASTA	171	18,621
	10 20 30 40 50 60 MEVAEPSSPT EEEEEEEEHS AEPRPRTRSN PEGAEDRAVG AQASVGSRSE GEGEAASADD 70 80 90 100 110 120 GSLNTSGAGP KSWQVPPPAP EVQIRTPRVN CPEKVIICLD LSEEMSLPKL ESFNGQQKTE 130 140 150 160 170 LPVTENVQTI PPPYVVRTIL VYSRPPCQPQ FSLTEPMKVG EAWEREGCLQ P

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Umbilical cord blood.
[2]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." 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. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3). Tissue: Brain and Spleen.
[4]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Ovary, Pituitary and Placenta.
[7]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[8]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-62, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-49 AND SER-66, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"K63-specific deubiquitination by two JAMM/MPN+ complexes: BRISC-associated Brcc36 and proteasomal Poh1." Cooper E.M., Cutcliffe C., Kristiansen T.Z., Pandey A., Pickart C.M., Cohen R.E. EMBO J. 28:621-631(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE BRISC COMPLEX.
[11]	"MERIT40 controls BRCA1-Rap80 complex integrity and recruitment to DNA double-strand breaks." Shao G., Patterson-Fortin J., Messick T.E., Feng D., Shanbhag N., Wang Y., Greenberg R.A. Genes Dev. 23:740-754(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE BRCA1-A COMPLEX, SUBCELLULAR LOCATION.
[12]	"NBA1, a new player in the Brca1 A complex, is required for DNA damage resistance and checkpoint control." Wang B., Hurov K., Hofmann K., Elledge S.J. Genes Dev. 23:729-739(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, IDENTIFICATION IN THE BRCA1-A COMPLEX, SUBCELLULAR LOCATION, DOMAIN VWFA-LIKE, INTERACTION WITH FAM175A.
[13]	"MERIT40 facilitates BRCA1 localization and DNA damage repair." Feng L., Huang J., Chen J. Genes Dev. 23:719-728(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE BRCA1-A COMPLEX, SUBCELLULAR LOCATION, INTERACTION WITH BRE.
[14]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-29; SER-49; THR-65 AND SER-66, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[15]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[16]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[17]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-49, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF161491 mRNA. Translation: AAF29106.1. Frameshift. AL136692 mRNA. Translation: CAB66627.1. AK000578 mRNA. Translation: BAA91268.1. AK299493 mRNA. Translation: BAG61451.1. AK301193 mRNA. Translation: BAG62773.1. CR533526 mRNA. Translation: CAG38557.1. AC104522 Genomic DNA. No translation available. BC000788 mRNA. Translation: AAH00788.1. BC006244 mRNA. Translation: AAH06244.1. BC091491 mRNA. Translation: AAH91491.1.
IPI	IPI00101987. IPI00910708. IPI01011341.
RefSeq	NP_001028721.1. NM_001033549.1. NP_054892.2. NM_014173.2.
UniGene	Hs.190722.
3D structure databases
ProteinModelPortal	Q9NWV8.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NWV8. 44 interactions.
STRING	9606.ENSP00000352408.
PTM databases
PhosphoSite	Q9NWV8.
Polymorphism databases
DMDM	74734678.
Proteomic databases
PaxDb	Q9NWV8.
PRIDE	Q9NWV8.
Protocols and materials databases
DNASU	29086.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000359435; ENSP00000352408; ENSG00000105393. ENST00000598188; ENSP00000471605; ENSG00000105393. ENST00000601043; ENSP00000470920; ENSG00000105393.
GeneID	29086.
KEGG	hsa:29086.
UCSC	uc002nfu.3. human. uc010xpl.1. human.
Organism-specific databases
CTD	29086.
GeneCards	GC19P017379.
H-InvDB	HIX0014885.
HGNC	HGNC:25008. BABAM1.
MIM	612766. gene.
neXtProt	NX_Q9NWV8.
PharmGKB	PA162378767.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG76997.
OMA	VQIRTPR.
Gene expression databases
Bgee	Q9NWV8.
CleanEx	HS_C19orf62.
Genevestigator	Q9NWV8.
Family and domain databases
InterPro	IPR026126. BABAM1. [Graphical view]
PANTHER	PTHR15660. PTHR15660. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	BABAM1. human.
GenomeRNAi	29086.
NextBio	52072.
SOURCE	Search...

Entry information

Entry name

BABA1_HUMAN

Accession

Primary (citable) accession number: Q9NWV8
Secondary accession number(s): A8MQT0 , B4DRY9, B4DVR1, Q6FIA0, Q9P018

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 85 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.