Q8N7W2 (BEND7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
BEN domain-containing protein 7

Gene names

Name:	BEND7
Synonyms:	C10orf30

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	519 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Sequence similarities	Contains 1 BEN domain.
Sequence caution	The sequence CAI12222.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI12223.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI12660.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI12661.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
NIF3L1	Q9GZT8	3	EBI-743382,EBI-740897

Alternative products

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

Isoform 1 (identifier: Q8N7W2-1)

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: Q8N7W2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.
     149-149: N → NGMVVNKHSEGSHG
     412-413: GA → VV
     414-519: Missing.

Isoform 3 (identifier: Q8N7W2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.
     394-394: S → SA

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 519	519	BEN domain-containing protein 7		PRO_0000244080
Regions
	Domain	287 – 392	106	BEN
	Compositional bias	217 – 220	4	Poly-Lys
Natural variations
	Alternative sequence	1 – 52	52	Missing in isoform 2 and isoform 3.		VSP_039846
	Alternative sequence	149	1	N → NGMVVNKHSEGSHG in isoform 2.		VSP_019506
	Alternative sequence	394	1	S → SA in isoform 3.		VSP_039847
	Alternative sequence	412 – 413	2	GA → VV in isoform 2.		VSP_019507
	Alternative sequence	414 – 519	106	Missing in isoform 2.		VSP_019508
	Natural variant	313	1	R → T in a breast cancer sample; somatic mutation. Ref.4		VAR_035501
	Natural variant	341	1	N → S. Corresponds to variant rs12247033 [ dbSNP | Ensembl ].		VAR_057830
Experimental info
	Sequence conflict	503	1	T → A in BAC05114. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 27, 2006. Version 2. Checksum: 28DCC0E7A21FADA8	FASTA	519	57,549
	10 20 30 40 50 60 MEFSERKRSR KSQSFKLVSR DYHHEVYKIP EFSNDVNGEA KETQPIFLGD ESMEIKKQIT 70 80 90 100 110 120 GMRRLLNDST GRIYQRVGKE GEKLKEEPQD LDLVWPPRLN SSAEAPQSLH PSSRGVWNEL 130 140 150 160 170 180 PPQSGQFSGQ YGTRSRTFQS QPHPTTSSNG ELPVVNSSAG SNCCTCNCQS TLQAILQELK 190 200 210 220 230 240 TMRKLMQIQA VGTQNRQQPP ISLICSQRTA VSRKRNKKKK VPPKTVEPLT VKQKPSGSEM 250 260 270 280 290 300 EKKSVVASEL SALQAAEHTS PEESRVLGFG IVLESPSSDP EVQLAEGFDV FMPKSQLDSI 310 320 330 340 350 360 LSNYTRSGSL LFRKLVCAFF DDKTLANSLP NGKRKRGLND NRKGLDQNIV GAIKVFTEKY 370 380 390 400 410 420 CTANHVDKLP GPRDWVQILQ DQIKLARRRL KRGSEIADSD ERLDGIALPP TGACGGPCTV 430 440 450 460 470 480 LPGGSAAVTL VLQSSPQTMS QEKGQMAEPW EEQHLVLLNN LTRDRAETGA LSQTSQDFKH 490 500 510 HSFLITQVSA TLHHQRGIRN FPTPGSAKSL TLHISCLSL
	Isoform 2 [UniParc]. Checksum: 577A783B89AEA087	FASTA	374	41,365
	10 20 30 40 50 60 MEIKKQITGM RRLLNDSTGR IYQRVGKEGE KLKEEPQDLD LVWPPRLNSS AEAPQSLHPS 70 80 90 100 110 120 SRGVWNELPP QSGQFSGQYG TRSRTFQSQP HPTTSSNGMV VNKHSEGSHG GELPVVNSSA 130 140 150 160 170 180 GSNCCTCNCQ STLQAILQEL KTMRKLMQIQ AVGTQNRQQP PISLICSQRT AVSRKRNKKK 190 200 210 220 230 240 KVPPKTVEPL TVKQKPSGSE MEKKSVVASE LSALQAAEHT SPEESRVLGF GIVLESPSSD 250 260 270 280 290 300 PEVQLAEGFD VFMPKSQLDS ILSNYTRSGS LLFRKLVCAF FDDKTLANSL PNGKRKRGLN 310 320 330 340 350 360 DNRKGLDQNI VGAIKVFTEK YCTANHVDKL PGPRDWVQIL QDQIKLARRR LKRGSEIADS 370 DERLDGIALP PTVV
	Isoform 3 [UniParc]. Checksum: 6CB4D4728BA7575C	FASTA	468	51,461
	10 20 30 40 50 60 MEIKKQITGM RRLLNDSTGR IYQRVGKEGE KLKEEPQDLD LVWPPRLNSS AEAPQSLHPS 70 80 90 100 110 120 SRGVWNELPP QSGQFSGQYG TRSRTFQSQP HPTTSSNGEL PVVNSSAGSN CCTCNCQSTL 130 140 150 160 170 180 QAILQELKTM RKLMQIQAVG TQNRQQPPIS LICSQRTAVS RKRNKKKKVP PKTVEPLTVK 190 200 210 220 230 240 QKPSGSEMEK KSVVASELSA LQAAEHTSPE ESRVLGFGIV LESPSSDPEV QLAEGFDVFM 250 260 270 280 290 300 PKSQLDSILS NYTRSGSLLF RKLVCAFFDD KTLANSLPNG KRKRGLNDNR KGLDQNIVGA 310 320 330 340 350 360 IKVFTEKYCT ANHVDKLPGP RDWVQILQDQ IKLARRRLKR GSAEIADSDE RLDGIALPPT 370 380 390 400 410 420 GACGGPCTVL PGGSAAVTLV LQSSPQTMSQ EKGQMAEPWE EQHLVLLNNL TRDRAETGAL 430 440 450 460 SQTSQDFKHH SFLITQVSAT LHHQRGIRNF PTPGSAKSLT LHISCLSL

References

[1]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[2]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] (ISOFORM 2). Tissue: Brain.
[4]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-313.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK097602 mRNA. Translation: BAC05114.1. AL359172, AL590677 Genomic DNA. Translation: CAI12222.1. Sequence problems. AL359172, AL590677 Genomic DNA. Translation: CAI12223.1. Sequence problems. AL359172, AL590677 Genomic DNA. Translation: CAI12224.1. AL590677, AL359172 Genomic DNA. Translation: CAI12660.1. Sequence problems. AL590677, AL359172 Genomic DNA. Translation: CAI12661.1. Sequence problems. AL590677, AL359172 Genomic DNA. Translation: CAI12662.1. BC031618 mRNA. Translation: AAH31618.1. CD300572 mRNA. No translation available.
IPI	IPI00167356. IPI00550463. IPI00873852.
RefSeq	NP_001094382.1. NM_001100912.1. NP_689964.2. NM_152751.2.
UniGene	Hs.498740.
3D structure databases
ProteinModelPortal	Q8N7W2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N7W2. 6 interactions.
MINT	MINT-7034572.
STRING	Q8N7W2.
PTM databases
PhosphoSite	Q8N7W2.
Polymorphism databases
DMDM	109820782.
Proteomic databases
PRIDE	Q8N7W2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000396900; ENSP00000380108; ENSG00000165626.
GeneID	222389.
KEGG	hsa:222389.
UCSC	uc001imm.2. human. uc001imo.2. human.
Organism-specific databases
CTD	222389.
GeneCards	GC10M013392.
HGNC	HGNC:23514. BEND7.
HPA	HPA037835.
neXtProt	NX_Q8N7W2.
PharmGKB	PA164716578.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG07871.
GeneTree	ENSGT00390000004595.
HOGENOM	HBG713639.
HOVERGEN	HBG080388.
InParanoid	Q8N7W2.
OMA	DLVWPQR.
Gene expression databases
ArrayExpress	Q8N7W2.
Bgee	Q8N7W2.
CleanEx	HS_BEND7.
Genevestigator	Q8N7W2.
GermOnline	ENSG00000165626. Homo sapiens.
Family and domain databases
InterPro	IPR018379. BEN_domain. [Graphical view]
Pfam	PF10523. BEN. 1 hit. [Graphical view]
SMART	SM01025. BEN. 1 hit. [Graphical view]
PROSITE	PS51457. BEN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	91596.

Entry information

Entry name

BEND7_HUMAN

Accession

Primary (citable) accession number: Q8N7W2
Secondary accession number(s): Q5SYY7 , Q5SYY8, Q5SYY9, Q8N5T7

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
Last sequence update:	June 27, 2006
Last modified:	January 25, 2012
This is version 67 of the entry and version 2 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.