Q5SZJ8 (BEND6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
BEN domain-containing protein 6

Gene names

Name:	BEND6
Synonyms:	C6orf65

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	279 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 1 BEN domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5SZJ8-1)

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: Q5SZJ8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     100-106: VLPQAVT → AWSRELP
     107-279: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q5SZJ8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: Missing.
     99-100: QV → ML

Note: No experimental confirmation available.

Isoform 4 (identifier: Q5SZJ8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     181-189: IARCNKSKP → NPLLQGTKL
     190-279: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 279	279	BEN domain-containing protein 6		PRO_0000295660
Regions
	Domain	171 – 271	101	BEN
	Coiled coil	62 – 99	38	Potential
Natural variations
	Alternative sequence	1 – 98	98	Missing in isoform 3.		VSP_026961
	Alternative sequence	99 – 100	2	QV → ML in isoform 3.		VSP_026962
	Alternative sequence	100 – 106	7	VLPQAVT → AWSRELP in isoform 2.		VSP_026963
	Alternative sequence	107 – 279	173	Missing in isoform 2.		VSP_026964
	Alternative sequence	181 – 189	9	IARCNKSKP → NPLLQGTKL in isoform 4.		VSP_026965
	Alternative sequence	190 – 279	90	Missing in isoform 4.		VSP_026966

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 20, 2007. Version 2. Checksum: 01A36F960DBC048D	FASTA	279	31,222
	10 20 30 40 50 60 MQKIVQTDEI TNTQAFRKGK RKRTETMDSE NANSDMDKGQ RDPYSGNAFL PGESSSEDEE 70 80 90 100 110 120 PLAELSKEEL CAKIKSLKEK LTNTRKENSR LRQSLVMLQV LPQAVTQFEE LVGMAEALLK 130 140 150 160 170 180 GGGTMSTSAS TLWRATNNSS PDSFASTCSN SNSNSSSPVS LKPEEEHQTD EKQFQIEKWQ 190 200 210 220 230 240 IARCNKSKPQ KFINDLMQVL YTNEYMATHS LTGAKSSTSR DKAVKPAMNQ NEVQEIIGVT 250 260 270 KQLFPNTDDV SIRRMIGQKL NNCTKKPNLS KNLNSQDIK
	Isoform 2 [UniParc]. Checksum: 71E01EF71D0C00C0	FASTA	106	12,150
	10 20 30 40 50 60 MQKIVQTDEI TNTQAFRKGK RKRTETMDSE NANSDMDKGQ RDPYSGNAFL PGESSSEDEE 70 80 90 100 PLAELSKEEL CAKIKSLKEK LTNTRKENSR LRQSLVMLQA WSRELP
	Isoform 3 [UniParc]. Checksum: 0CD2405E7D6FAC6A	FASTA	181	20,076
	10 20 30 40 50 60 MLLPQAVTQF EELVGMAEAL LKGGGTMSTS ASTLWRATNN SSPDSFASTC SNSNSNSSSP 70 80 90 100 110 120 VSLKPEEEHQ TDEKQFQIEK WQIARCNKSK PQKFINDLMQ VLYTNEYMAT HSLTGAKSST 130 140 150 160 170 180 SRDKAVKPAM NQNEVQEIIG VTKQLFPNTD DVSIRRMIGQ KLNNCTKKPN LSKNLNSQDI K
	Isoform 4 [UniParc]. Checksum: 19532B0DF27C62D2	FASTA	189	21,021
	10 20 30 40 50 60 MQKIVQTDEI TNTQAFRKGK RKRTETMDSE NANSDMDKGQ RDPYSGNAFL PGESSSEDEE 70 80 90 100 110 120 PLAELSKEEL CAKIKSLKEK LTNTRKENSR LRQSLVMLQV LPQAVTQFEE LVGMAEALLK 130 140 150 160 170 180 GGGTMSTSAS TLWRATNNSS PDSFASTCSN SNSNSSSPVS LKPEEEHQTD EKQFQIEKWQ NPLLQGTKL

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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Cerebellum.
[2]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). Tissue: Brain.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK054724 mRNA. Translation: BAB70799.1. AL590037 Genomic DNA. Translation: CAI12115.2. BC022988 mRNA. Translation: AAH22988.1. BC036119 mRNA. Translation: AAH36119.1.
IPI	IPI00074656. IPI00166938. IPI00639920. IPI00645982.
RefSeq	NP_689944.2. NM_152731.2.
UniGene	Hs.582993.
3D structure databases
ProteinModelPortal	Q5SZJ8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000359782.
Polymorphism databases
DMDM	156630915.
Proteomic databases
PaxDb	Q5SZJ8.
PRIDE	Q5SZJ8.
Protocols and materials databases
DNASU	221336.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000370746; ENSP00000359782; ENSG00000151917. ENST00000370748; ENSP00000359784; ENSG00000151917. ENST00000495359; ENSP00000436653; ENSG00000151917. ENST00000545789; ENSP00000439320; ENSG00000151917.
GeneID	221336.
KEGG	hsa:221336.
UCSC	uc003pdi.4. human. uc010kab.3. human.
Organism-specific databases
CTD	221336.
GeneCards	GC06P056819.
HGNC	HGNC:20871. BEND6.
HPA	HPA031605.
neXtProt	NX_Q5SZJ8.
PharmGKB	PA164716559.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG83850.
HOGENOM	HOG000095199.
HOVERGEN	HBG106366.
InParanoid	Q5SZJ8.
OMA	TDEKQFK.
OrthoDB	EOG476K0T.
Gene expression databases
ArrayExpress	Q5SZJ8.
Bgee	Q5SZJ8.
CleanEx	HS_BEND6.
Genevestigator	Q5SZJ8.
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
GenomeRNAi	221336.
NextBio	91293.

Entry information

Entry name

BEND6_HUMAN

Accession

Primary (citable) accession number: Q5SZJ8
Secondary accession number(s): Q4G0W8, Q8N662, Q96NS6

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 24, 2007
Last sequence update:	February 20, 2007
Last modified:	April 3, 2013
This is version 57 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.