Q5VYM1 (CI131_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Uncharacterized protein C9orf131

Gene names

Name:

C9orf131

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	1079 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Caution	It is uncertain whether Met-1 or Met-15 is the initiator.
Sequence caution	The sequence AAH45643.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

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

Alternative products

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

Isoform 1 (identifier: Q5VYM1-1)

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: Q5VYM1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: MEWLLEDLLGAKGDMGLLWGQLTHALACRHCGSSCFQSPGNLVTLFLFVVWQ → MLRK

Isoform 3 (identifier: Q5VYM1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-76: MEWLLEDLLG...PWCSGNMVQG → MLR

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1079	1079	Uncharacterized protein C9orf131		PRO_0000294443
Natural variations
	Alternative sequence	1 – 76	76	MEWLL…NMVQG → MLR in isoform 3.		VSP_046225
	Alternative sequence	1 – 52	52	MEWLL…FVVWQ → MLRK in isoform 2.		VSP_046224
	Natural variant	222	1	W → L. Ref.2 Corresponds to variant rs615474 [ dbSNP | Ensembl ].		VAR_047239
	Natural variant	285	1	L → F. Corresponds to variant rs10117097 [ dbSNP | Ensembl ].		VAR_047240
	Natural variant	437	1	L → V. Corresponds to variant rs35523761 [ dbSNP | Ensembl ].		VAR_047241
	Natural variant	623	1	S → T. Corresponds to variant rs2298312 [ dbSNP | Ensembl ].		VAR_047242
	Natural variant	916	1	P → S. Corresponds to variant rs3739871 [ dbSNP | Ensembl ].		VAR_047243
Experimental info
	Sequence conflict	218	1	S → Y in AAH45643. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 4, 2008. Version 3. Checksum: 8BC7A94F771E468E	FASTA	1,079	117,724
	10 20 30 40 50 60 MEWLLEDLLG AKGDMGLLWG QLTHALACRH CGSSCFQSPG NLVTLFLFVV WQIQRWWQLG 70 80 90 100 110 120 RLRQLHPWCS GNMVQGKELP LLHRVAFLDH LCKQKSEVEE EGEEEEEGED EASLDPLKPC 130 140 150 160 170 180 SPTKEAPTGE QATPAPPQPS CGSEGLLKAI GIPEQTVMQP VSPSRSFPIF QILTSFPVRH 190 200 210 220 230 240 KIASGNRQQQ RKSQLFWGLP SLHSESLEAI FLSSGGPSPL KWSVCSSVFF NKLAFLPRSN 250 260 270 280 290 300 LLLPQYHSSA QFSTHGAHTM EDLEGMAPDP QLLPPPSSPS VSSLLLHLRP FPVDHKGVLS 310 320 330 340 350 360 GAEAPTQSPG TSPLEVLPGY ETHLETTGHK KMPQAFEPPM PPPCQSPASL SEPRKVSPEG 370 380 390 400 410 420 GLAISKDFWG TVGYREKPQA SESSMPVPCP PLDSLPELQR ESSLEDPSRY KPQWECRENS 430 440 450 460 470 480 GNLWAFESPV LDLNPELSGT SPECVPPASE TPWKGMQSRE NIWVPADPVS PPSLPSVPLL 490 500 510 520 530 540 ESLVMGPQGV LSESKALWET MGQKENLWAS DSPDPVHSTP PTTLMEPHRI NPGECLATSE 550 560 570 580 590 600 ATWKDTEHSR NSSASRSPSL ALSPPPALAP ELLRVRSMGV LSDSEARCGD IQKTKNSWAS 610 620 630 640 650 660 KHPACNLPQD LHGASPLGVL SDSQSIVGEM EQKENCVPVF PGRGSSPSSN SVSKSHVSEP 670 680 690 700 710 720 IADQSNYKPD GEAVEQRKNH WATELPAPSS LSTPLPEPHI DLELVWRNVQ QREVPQGPSP 730 740 750 760 770 780 LAVDPLHPVP QPPTLAEAVK IERTHPGLPK GVTCPGVKAE APLSQRWTVP ELLTHPGIHA 790 800 810 820 830 840 WQWSRELKLR LKKLRQSPAS RAPGPSQSFC SSPILSSTIP DFWGLPSCPP QQIYPPNPCP 850 860 870 880 890 900 HSSSCHPQEV QRTVPQPVQS SHCHHFQSSS QLQPQESGRA EQGSQRGEKM KGKMVSQVPS 910 920 930 940 950 960 QGPCVHMEAG VDYLSPGPGE PSNSKVLVSG KRKDKASASS SAKKREHPRK PKAGDHRRGT 970 980 990 1000 1010 1020 ARLGLSTVTG KNHPAQARSL VEAPVSTFPQ RSQHRGQSSQ HTALPQLLLP KASGPQDQPE 1030 1040 1050 1060 1070 AGRRASDILT PRHCKHCPWA HMEKYLSFPT LKASLTRGLQ KVLAKCLDNH RPLPTKSSQ
	Isoform 2 [UniParc]. Checksum: E5C93BEAF39F5623	FASTA	1,031	112,477
	10 20 30 40 50 60 MLRKIQRWWQ LGRLRQLHPW CSGNMVQGKE LPLLHRVAFL DHLCKQKSEV EEEGEEEEEG 70 80 90 100 110 120 EDEASLDPLK PCSPTKEAPT GEQATPAPPQ PSCGSEGLLK AIGIPEQTVM QPVSPSRSFP 130 140 150 160 170 180 IFQILTSFPV RHKIASGNRQ QQRKSQLFWG LPSLHSESLE AIFLSSGGPS PLKWSVCSSV 190 200 210 220 230 240 FFNKLAFLPR SNLLLPQYHS SAQFSTHGAH TMEDLEGMAP DPQLLPPPSS PSVSSLLLHL 250 260 270 280 290 300 RPFPVDHKGV LSGAEAPTQS PGTSPLEVLP GYETHLETTG HKKMPQAFEP PMPPPCQSPA 310 320 330 340 350 360 SLSEPRKVSP EGGLAISKDF WGTVGYREKP QASESSMPVP CPPLDSLPEL QRESSLEDPS 370 380 390 400 410 420 RYKPQWECRE NSGNLWAFES PVLDLNPELS GTSPECVPPA SETPWKGMQS RENIWVPADP 430 440 450 460 470 480 VSPPSLPSVP LLESLVMGPQ GVLSESKALW ETMGQKENLW ASDSPDPVHS TPPTTLMEPH 490 500 510 520 530 540 RINPGECLAT SEATWKDTEH SRNSSASRSP SLALSPPPAL APELLRVRSM GVLSDSEARC 550 560 570 580 590 600 GDIQKTKNSW ASKHPACNLP QDLHGASPLG VLSDSQSIVG EMEQKENCVP VFPGRGSSPS 610 620 630 640 650 660 SNSVSKSHVS EPIADQSNYK PDGEAVEQRK NHWATELPAP SSLSTPLPEP HIDLELVWRN 670 680 690 700 710 720 VQQREVPQGP SPLAVDPLHP VPQPPTLAEA VKIERTHPGL PKGVTCPGVK AEAPLSQRWT 730 740 750 760 770 780 VPELLTHPGI HAWQWSRELK LRLKKLRQSP ASRAPGPSQS FCSSPILSST IPDFWGLPSC 790 800 810 820 830 840 PPQQIYPPNP CPHSSSCHPQ EVQRTVPQPV QSSHCHHFQS SSQLQPQESG RAEQGSQRGE 850 860 870 880 890 900 KMKGKMVSQV PSQGPCVHME AGVDYLSPGP GEPSNSKVLV SGKRKDKASA SSSAKKREHP 910 920 930 940 950 960 RKPKAGDHRR GTARLGLSTV TGKNHPAQAR SLVEAPVSTF PQRSQHRGQS SQHTALPQLL 970 980 990 1000 1010 1020 LPKASGPQDQ PEAGRRASDI LTPRHCKHCP WAHMEKYLSF PTLKASLTRG LQKVLAKCLD 1030 NHRPLPTKSS Q
	Isoform 3 [UniParc]. Checksum: 5434D6658011A009	FASTA	1,006	109,417
	10 20 30 40 50 60 MLRKELPLLH RVAFLDHLCK QKSEVEEEGE EEEEGEDEAS LDPLKPCSPT KEAPTGEQAT 70 80 90 100 110 120 PAPPQPSCGS EGLLKAIGIP EQTVMQPVSP SRSFPIFQIL TSFPVRHKIA SGNRQQQRKS 130 140 150 160 170 180 QLFWGLPSLH SESLEAIFLS SGGPSPLKWS VCSSVFFNKL AFLPRSNLLL PQYHSSAQFS 190 200 210 220 230 240 THGAHTMEDL EGMAPDPQLL PPPSSPSVSS LLLHLRPFPV DHKGVLSGAE APTQSPGTSP 250 260 270 280 290 300 LEVLPGYETH LETTGHKKMP QAFEPPMPPP CQSPASLSEP RKVSPEGGLA ISKDFWGTVG 310 320 330 340 350 360 YREKPQASES SMPVPCPPLD SLPELQRESS LEDPSRYKPQ WECRENSGNL WAFESPVLDL 370 380 390 400 410 420 NPELSGTSPE CVPPASETPW KGMQSRENIW VPADPVSPPS LPSVPLLESL VMGPQGVLSE 430 440 450 460 470 480 SKALWETMGQ KENLWASDSP DPVHSTPPTT LMEPHRINPG ECLATSEATW KDTEHSRNSS 490 500 510 520 530 540 ASRSPSLALS PPPALAPELL RVRSMGVLSD SEARCGDIQK TKNSWASKHP ACNLPQDLHG 550 560 570 580 590 600 ASPLGVLSDS QSIVGEMEQK ENCVPVFPGR GSSPSSNSVS KSHVSEPIAD QSNYKPDGEA 610 620 630 640 650 660 VEQRKNHWAT ELPAPSSLST PLPEPHIDLE LVWRNVQQRE VPQGPSPLAV DPLHPVPQPP 670 680 690 700 710 720 TLAEAVKIER THPGLPKGVT CPGVKAEAPL SQRWTVPELL THPGIHAWQW SRELKLRLKK 730 740 750 760 770 780 LRQSPASRAP GPSQSFCSSP ILSSTIPDFW GLPSCPPQQI YPPNPCPHSS SCHPQEVQRT 790 800 810 820 830 840 VPQPVQSSHC HHFQSSSQLQ PQESGRAEQG SQRGEKMKGK MVSQVPSQGP CVHMEAGVDY 850 860 870 880 890 900 LSPGPGEPSN SKVLVSGKRK DKASASSSAK KREHPRKPKA GDHRRGTARL GLSTVTGKNH 910 920 930 940 950 960 PAQARSLVEA PVSTFPQRSQ HRGQSSQHTA LPQLLLPKAS GPQDQPEAGR RASDILTPRH 970 980 990 1000 CKHCPWAHME KYLSFPTLKA SLTRGLQKVL AKCLDNHRPL PTKSSQ

References

[1]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"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), VARIANT LEU-222. Tissue: Testis.
[3]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 929-1079 (ISOFORM 1). Tissue: Testis.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL353795 Genomic DNA. Translation: CAH70992.1. BC045643 mRNA. Translation: AAH45643.1. Different initiation. AL133575 mRNA. Translation: CAB63722.1.
IPI	IPI00398256. IPI00744439. IPI00745209.
PIR	T43478.
RefSeq	NP_001035500.1. NM_001040410.1. NP_001035501.1. NM_001040411.1. NP_001035502.1. NM_001040412.1. NP_976044.2. NM_203299.2.
UniGene	Hs.148250. Hs.742567.
3D structure databases
ProteinModelPortal	Q5VYM1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q5VYM1. 2 interactions.
PTM databases
PhosphoSite	Q5VYM1.
Polymorphism databases
DMDM	212276515.
Proteomic databases
PaxDb	Q5VYM1.
PRIDE	Q5VYM1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000312292; ENSP00000308279; ENSG00000174038. ENST00000354479; ENSP00000346472; ENSG00000174038. ENST00000421362; ENSP00000393683; ENSG00000174038.
GeneID	138724.
KEGG	hsa:138724.
UCSC	uc003zvw.3. human.
Organism-specific databases
CTD	138724.
GeneCards	GC09P035024.
H-InvDB	HIX0114895. HIX0201378.
HGNC	HGNC:31418. C9orf131.
HPA	HPA022029.
neXtProt	NX_Q5VYM1.
PharmGKB	PA145149697.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG40075.
HOGENOM	HOG000111660.
HOVERGEN	HBG099349.
InParanoid	Q5VYM1.
OMA	RHCGSSC.
OrthoDB	EOG4QNMVH.
Gene expression databases
ArrayExpress	Q5VYM1.
Bgee	Q5VYM1.
CleanEx	HS_C9orf131.
Genevestigator	Q5VYM1.
Family and domain databases
InterPro	IPR026677. UPF_C9orf131. [Graphical view]
PANTHER	PTHR21777. PTHR21777. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	138724.
NextBio	83825.

Entry information

Entry name

CI131_HUMAN

Accession

Primary (citable) accession number: Q5VYM1
Secondary accession number(s): A6NLE6 , E9PB26, Q86XC6, Q9UF74

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 10, 2007
Last sequence update:	November 4, 2008
Last modified:	April 3, 2013
This is version 63 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.