Q9P281 (BAHC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
BAH and coiled-coil domain-containing protein 1

Alternative name(s):
Bromo adjacent homology domain-containing protein 2
Short name=BAH domain-containing protein 2

Gene names

Name:	BAHCC1
Synonyms:	BAHD2, KIAA1447

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	2608 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Post-translational modification	Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.5
Sequence similarities	Contains 1 BAH domain.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	Coiled coil
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular function	DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2608	2608	BAH and coiled-coil domain-containing protein 1		PRO_0000312118
Regions
	Domain	2482 – 2602	121	BAH
	Coiled coil	1397 – 1442	46	Potential
	Compositional bias	788 – 1028	241	Pro-rich
	Compositional bias	2315 – 2349	35	Ser-rich
Amino acid modifications
	Modified residue	222	1	N6-acetyllysine Ref.6
	Modified residue	1200	1	Phosphoserine Ref.5
Natural variations
	Natural variant	272	1	A → T. Corresponds to variant rs12952981 [ dbSNP | Ensembl ].		VAR_061559
	Natural variant	1137	1	T → A. Ref.3 Corresponds to variant rs7213444 [ dbSNP | Ensembl ].		VAR_059589
	Natural variant	1403	1	R → Q. Corresponds to variant rs35572189 [ dbSNP | Ensembl ].		VAR_061560
	Natural variant	1647	1	T → A. Ref.3 Corresponds to variant rs12601317 [ dbSNP | Ensembl ].		VAR_061561
	Natural variant	1998	1	V → I. Corresponds to variant rs34680524 [ dbSNP | Ensembl ].		VAR_061562
	Natural variant	2479	1	R → C. Corresponds to variant rs8746 [ dbSNP | Ensembl ].		VAR_050685
Experimental info
	Sequence conflict	61 – 120	60	SSRLM…HSHEA → CWRLQGNPAAVLCVSPFITS WLGNNRKWHFSGGRSLPFQP AVTCAGPSPFLGYYSLSQPP in AC110285. Ref.1
	Sequence conflict	1054	1	P → PVARAHSVAHAGLEFLASND PSTSASQSFGIT in BAA95971. Ref.3
	Sequence conflict	1621	1	N → S in BAA95971. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q9P281 [UniParc]. Last modified September 2, 2008. Version 3. Checksum: 494D61C2AC35B35B	FASTA	2,608	276,932
	10 20 30 40 50 60 MDGRDFAPPP HLLSERGSLG HRSAAAAARL APAGPAAQPP AHFQPGKYFP SPLPMASHTA 70 80 90 100 110 120 SSRLMGSSPA SSFMGSFLTS SLGSAASTHP SGPSSSPPEQ AYRGSHPTTS QIWFSHSHEA 130 140 150 160 170 180 PGYPRFSGSL ASTFLPVSHL DHHGNSNVLY GQHRFYGTQK DNFYLRNLPP QPTLLPANHN 190 200 210 220 230 240 FPSVARAAPA HPMGSCSRDR DRGEAGSLQK GPKDFDRFLV GKELGREKAG KAAEGKERPA 250 260 270 280 290 300 AEEDGGKERH KLVLPVPADG HCREGGPAPR GACEGRPKHL TSCLLNTKVL NGEMGRAALA 310 320 330 340 350 360 SCAGGMLGRP GTGVVTSGRC AKEAAGPPEP GPAFSECLER RQMLHHTASY AGPPPPLSTA 370 380 390 400 410 420 AGSFPCLQLH GGPDGLCPLQ DKAPRDLKAS GPTFVPSVGH LADKGRPFQA AEACAVAGEG 430 440 450 460 470 480 KDRHLEGTMA PDHAAPYGVS YAHLKAEGKG ERRPGGFEAA LNPRLKGLDY LSSAGPEASF 490 500 510 520 530 540 PGLPKSGLDK SGYFELPTSS QDCARPGHQD PLGGKAPQAC CTLDKTVGKE APAGPPGAQK 550 560 570 580 590 600 VARIRHQQHL MAAEVEQGGI GAEAKRKSLE LASLGYSGPH LPPWGVQAGQ GTAMAISEER 610 620 630 640 650 660 KAGAYLDPFG SGLQQAALLP QELPAPPDEV SAMKNLLKYS SQALVVGQKA PLVGLGGLKA 670 680 690 700 710 720 SCIQQEAKFL SSKGPGQSER PDCARSREHD TTHGDGEVRQ PPVGIAVALA RQKDTVSRSE 730 740 750 760 770 780 AAYGTNTARQ GRAAPAFKGG GGPRSTHALD LEAEEERTRL CDDRLGLASR ELLLQDSKDR 790 800 810 820 830 840 VEFARIHPPS SCPGDLAPHL MMQSGQLGGD PAPHTHPHPP WLPRTRSPSL WMGGHSYGLG 850 860 870 880 890 900 HPALHQNLPP GFPASVAGPV PSVFPLPQDA PTQLVILPSE PTPHSAPHAL ADVMDQASLW 910 920 930 940 950 960 PPMYGGRGPA SHMQHPGQLP VYSRPQLLRQ QELYALQQQR AAQFQRKPED QHLDLEEPAQ 970 980 990 1000 1010 1020 EKAPKSTHKP VALTPTAPGA PSPAAGPTKL PPCCHPPDPK PPASSPTPPP RPSAPCTLNV 1030 1040 1050 1060 1070 1080 CPASSPGPGS RVRSAEEKNG EGQQSTADII TSEPDLPPGY LRPMAGLGFS LPSDVHSSNL 1090 1100 1110 1120 1130 1140 EDPETMQTTA PGAQPEPTRT FLPGEPPPCS PRSLEEPGLL SGAREATQDL AATPYPTERG 1150 1160 1170 1180 1190 1200 PQGKAADPSP LEGLQELQCA ALLEAGGPEA TGQAHSTQGG AREERSREEG EQGPSSGASS 1210 1220 1230 1240 1250 1260 QVLEQRAGSP GALEDEGEQP APEEDELEED ELGQQSMEDS EEDCGGAPDN SHPPRALPGL 1270 1280 1290 1300 1310 1320 DALVAATINL GDLPSDSPPD PQPPAASGPP STVPLPHSSG IHGIALLSEL ADLAIQRQRS 1330 1340 1350 1360 1370 1380 ERTVPEEEED VLAFNLQHLA TLATAWSLVE AAGLDSSTAP AQPPTANPCS GPRLTPRMQI 1390 1400 1410 1420 1430 1440 LQRKDTWTPK TKPVCPLKAA IDRLDTQEVG MRVRLAELQR RYKEKQRELA RLQRKHDHER 1450 1460 1470 1480 1490 1500 DESSRSPARR GPGRPRKRKH SSSLPAPRPT GPLPRSDGKK VKAVRTSLGL LCAELRGGSG 1510 1520 1530 1540 1550 1560 GEPAKKRSKL ERSVYAGLQT ASVEKAQCKK SSCQGGLAPS VAHRVAQLKP KVKSKGLPTG 1570 1580 1590 1600 1610 1620 LSSFQQKEAT PGGRIREKLS RAKSAKVSGA TRHPQPKGHG SRETPRCPAQ PSVAASQEAG 1630 1640 1650 1660 1670 1680 NGYDSEDCEG LLGTEAPPRE AGLLLHTGAS VAVLGPSPSS VVKMEANQKA KKKKERQGLL 1690 1700 1710 1720 1730 1740 GACRLSSPES EVKIKRRSVK AKVGTTLERA PGQRPPGALG KKKAKGKAKG SLRAEPGATP 1750 1760 1770 1780 1790 1800 SRDALFNPSR AFACREEGSQ LASERLKRAT RKGTVLQPVL RRKNGALSIT LATRNAKAIL 1810 1820 1830 1840 1850 1860 GKGRKLSKVK HKAGKQGKGR AVSRLLESFA VEEDFEFDDN SSFSEEEEDE EEEEEDSGPL 1870 1880 1890 1900 1910 1920 SAEQSAALAR SCAIHKEDLR DGLPVLIPKE DSLLYAGSVR TLQPPDIYSI VIEGERGNRQ 1930 1940 1950 1960 1970 1980 RIYSLEQLLQ EAVLDVRPQS SRYLPPGTRV CAYWSQKSRC LYPGNVVRGA SGDEDEDLDS 1990 2000 2010 2020 2030 2040 VVVEFDDGDT GHIAVSNVRL LPPDFKIQCT EPSPALLVSS SCRRTKKVSS EAPPPSEAAT 2050 2060 2070 2080 2090 2100 PSLSPKAQDG PEALKTPGKK SISKDKAGKA ELLTSGAKSP TGASDHFLGR RGSPLLSWSA 2110 2120 2130 2140 2150 2160 VAQTKRKAVA AASKGPGVLQ NLFQLNGSSK KLRAREALFP VHSVATPIFG NGFRADSFSS 2170 2180 2190 2200 2210 2220 LASSYAPFVG GTGPGLPRGA HKLLRAKKAE RVEAEKGGRR RAGGEFLVKL DHEGVTSPKN 2230 2240 2250 2260 2270 2280 KTCKALLMGD KDFSPKLGRP LPSPSYVHPA LVGKDKKGRA PIPPLPMGLA LRKYAGQAEF 2290 2300 2310 2320 2330 2340 PLPYDSDCHS SFSDEDEDGP GLAAGVPSRF LARLSVSSSS SGSSTSSSSG SVSTSSLCSS 2350 2360 2370 2380 2390 2400 DNEDSSYSSD DEDPALLLQT CLTHPVPTLL AQPEALRSKG SGPHAHAQRC FLSRATVAGT 2410 2420 2430 2440 2450 2460 GAGSGPSSSS KSKLKRKEAL SFSKAKELSR RQRPPSVENR PKISAFLPAR QLWKWSGNPT 2470 2480 2490 2500 2510 2520 QRRGMKGKAR KLFYKAIVRG EETLRVGDCA VFLSAGRPNL PYIGRIESMW ESWGSNMVVK 2530 2540 2550 2560 2570 2580 VKWFYHPEET KLGKRQCDGK NALYQSCHED ENDVQTISHK CQVVAREQYE QMARSRKCQD 2590 2600 RQDLYYLAGT YDPTTGRLVT ADGVPILC

References

[1]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed: 16625196] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	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 (JUN-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:143-150(2000) [PubMed: 10819331] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 745-2434, VARIANTS ALA-1137 AND ALA-1647. Tissue: Brain.
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2420-2608. Tissue: Pancreas.
[5]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1200, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[6]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-222, MASS SPECTROMETRY.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC110285 Genomic DNA. No translation available. AC139149 Genomic DNA. No translation available. AADB02019016 Genomic DNA. No translation available. AB040880 mRNA. Translation: BAA95971.1. BC033222 mRNA. Translation: AAH33222.1.
IPI	IPI00845508.
RefSeq	NP_001073988.2. NM_001080519.2.
UniGene	Hs.514580.
3D structure databases
ProteinModelPortal	Q9P281.
SMR	Q9P281. Positions 2483-2600.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9P281. 3 interactions.
PTM databases
PhosphoSite	Q9P281.
Polymorphism databases
DMDM	205371795.
Proteomic databases
PRIDE	Q9P281.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000436173; ENSP00000411847; ENSG00000171282.
GeneID	57597.
KEGG	hsa:57597.
Organism-specific databases
CTD	57597.
GeneCards	GC17P079373.
H-InvDB	HIX0014249.
HGNC	HGNC:29279. BAHCC1.
HPA	HPA023386.
neXtProt	NX_Q9P281.
PharmGKB	PA128394719.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00530000063602.
HOGENOM	HBG443884.
HOVERGEN	HBG107492.
OrthoDB	EOG4R23SX.
Gene expression databases
ArrayExpress	Q9P281.
CleanEx	HS_BAHCC1.
Genevestigator	Q9P281.
Family and domain databases
InterPro	IPR001025. BAH_dom. [Graphical view]
Pfam	PF01426. BAH. 1 hit. [Graphical view]
SMART	SM00439. BAH. 1 hit. [Graphical view]
PROSITE	PS51038. BAH. 1 hit. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

BAHC1_HUMAN

Accession

Primary (citable) accession number: Q9P281
Secondary accession number(s): Q5U629

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 4, 2007
Last sequence update:	September 2, 2008
Last modified:	January 25, 2012
This is version 54 of the entry and version 3 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.