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Protein

Uncharacterized protein C17orf53

Gene

C17orf53

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C17orf53
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:28460. C17orf53.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672236.

Polymorphism and mutation databases

BioMutaiC17orf53.
DMDMi74714855.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 647647Uncharacterized protein C17orf53PRO_0000288092Add
BLAST

Proteomic databases

EPDiQ8N3J3.
MaxQBiQ8N3J3.
PaxDbiQ8N3J3.
PRIDEiQ8N3J3.

PTM databases

iPTMnetiQ8N3J3.
PhosphoSiteiQ8N3J3.

Expressioni

Gene expression databases

BgeeiQ8N3J3.
CleanExiHS_C17orf53.
GenevisibleiQ8N3J3. HS.

Organism-specific databases

HPAiHPA023004.
HPA023393.
HPA024430.

Interactioni

Protein-protein interaction databases

BioGridi122466. 9 interactions.
IntActiQ8N3J3. 5 interactions.
MINTiMINT-8417621.
STRINGi9606.ENSP00000313500.

Structurei

3D structure databases

ProteinModelPortaliQ8N3J3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IFHD. Eukaryota.
ENOG4111NPV. LUCA.
GeneTreeiENSGT00400000022305.
HOGENOMiHOG000111931.
HOVERGENiHBG099865.
InParanoidiQ8N3J3.
OMAiCTYSIVM.
OrthoDBiEOG7WX082.
PhylomeDBiQ8N3J3.
TreeFamiTF331108.

Family and domain databases

InterProiIPR028045. DUF4539.
[Graphical view]
PfamiPF15072. DUF4539. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N3J3-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MACSLQKLFA VEEEFEDEDF LSAVEDAENR FTGSLPVNAG RLRPVSSRPQ
60 70 80 90 100
ETVQAQSSRL LLLHPTAPSE ALGLPDLDLC LPASSTPSAD SRPSCIGAAP
110 120 130 140 150
LRPVSTSSSW IGNQRRVTVT EVLRETARPQ SSALHPLLTF ESQQQQVGGF
160 170 180 190 200
EGPEQDEFDK VLASMELEEP GMELECGVSS EAIPILPAQQ REGSVLAKKA
210 220 230 240 250
RVVDLSGSCQ KGPVPAIHKA GIMSAQDESL DPVIQCRTPR PPLRPGAVGH
260 270 280 290 300
LPVPTALTVP TQQLHWEVCP QRSPVQALQP LQAARGTIQS SPQNRFPCQP
310 320 330 340 350
FQSPSSWLSG KAHLPRPRTP NSSCSTPSRT SSGLFPRIPL QPQAPVSSIG
360 370 380 390 400
SPVGTPKGPQ GALQTPIVTN HLVQLVTAAS RTPQQPTHPS TRAKTRRFPG
410 420 430 440 450
PAGILPHQQS GRSLEDIMVS APQTPTHGAL AKFQTEIVAS SQASVEEDFG
460 470 480 490 500
RGPWLTMKST LGLDERDPSC FLCTYSIVMV LRKQAALKQL PRNKVPNMAV
510 520 530 540 550
MIKSLTRSTM DASVVFKDPT GEMQGTVHRL LLETCQNELK PGSVLLLKQI
560 570 580 590 600
GVFSPSLRNH YLNVTPNNLV HIYSPDSGDG SFLKPSQPFP KDSGSFQHDV
610 620 630 640
AAKPEEGFRT AQNLEAEASP EEELPEADDL DGLLSELPED FFCGTSS
Length:647
Mass (Da):69,771
Last modified:October 1, 2002 - v1
Checksum:i087F0413951BCD43
GO
Isoform 2 (identifier: Q8N3J3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     108-137: SSWIGNQRRVTVTEVLRETARPQSSALHPL → NCLNSSHSATPLGSLSATLHCSSTSASPSC
     138-647: Missing.

Note: No experimental confirmation available.
Show »
Length:137
Mass (Da):14,269
Checksum:iD59516006B13834D
GO
Isoform 3 (identifier: Q8N3J3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     409-484: Missing.
     592-597: DSGSFQ → MTWMDS
     598-647: Missing.

Note: No experimental confirmation available.
Show »
Length:521
Mass (Da):56,181
Checksum:i5614F5CA1893A33E
GO
Isoform 4 (identifier: Q8N3J3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     484-484: Missing.

Show »
Length:646
Mass (Da):69,643
Checksum:i6F984B89AA65B1C1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti126 – 1261T → P.1 Publication
Corresponds to variant rs227584 [ dbSNP | Ensembl ].
VAR_032393

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei108 – 13730SSWIG…ALHPL → NCLNSSHSATPLGSLSATLH CSSTSASPSC in isoform 2. 1 PublicationVSP_025651Add
BLAST
Alternative sequencei138 – 647510Missing in isoform 2. 1 PublicationVSP_025652Add
BLAST
Alternative sequencei409 – 48476Missing in isoform 3. 1 PublicationVSP_025653Add
BLAST
Alternative sequencei484 – 4841Missing in isoform 4. 1 PublicationVSP_047077
Alternative sequencei592 – 5976DSGSFQ → MTWMDS in isoform 3. 1 PublicationVSP_025654
Alternative sequencei598 – 64750Missing in isoform 3. 1 PublicationVSP_025655Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK291924 mRNA. Translation: BAF84613.1.
AK021656 mRNA. Translation: BAB13867.1.
AL834295 mRNA. Translation: CAD38968.1.
AC004596 Genomic DNA. No translation available.
BC000121 mRNA. Translation: AAH00121.1.
CCDSiCCDS11477.1. [Q8N3J3-1]
CCDS59293.1. [Q8N3J3-4]
RefSeqiNP_001164722.1. NM_001171251.2. [Q8N3J3-4]
NP_076937.2. NM_024032.4. [Q8N3J3-1]
XP_011523498.1. XM_011525196.1. [Q8N3J3-3]
UniGeneiHs.437059.

Genome annotation databases

EnsembliENST00000245382; ENSP00000245382; ENSG00000125319. [Q8N3J3-3]
ENST00000319977; ENSP00000313500; ENSG00000125319. [Q8N3J3-1]
ENST00000585683; ENSP00000466618; ENSG00000125319. [Q8N3J3-4]
GeneIDi78995.
KEGGihsa:78995.
UCSCiuc002ifi.2. human. [Q8N3J3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK291924 mRNA. Translation: BAF84613.1.
AK021656 mRNA. Translation: BAB13867.1.
AL834295 mRNA. Translation: CAD38968.1.
AC004596 Genomic DNA. No translation available.
BC000121 mRNA. Translation: AAH00121.1.
CCDSiCCDS11477.1. [Q8N3J3-1]
CCDS59293.1. [Q8N3J3-4]
RefSeqiNP_001164722.1. NM_001171251.2. [Q8N3J3-4]
NP_076937.2. NM_024032.4. [Q8N3J3-1]
XP_011523498.1. XM_011525196.1. [Q8N3J3-3]
UniGeneiHs.437059.

3D structure databases

ProteinModelPortaliQ8N3J3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122466. 9 interactions.
IntActiQ8N3J3. 5 interactions.
MINTiMINT-8417621.
STRINGi9606.ENSP00000313500.

PTM databases

iPTMnetiQ8N3J3.
PhosphoSiteiQ8N3J3.

Polymorphism and mutation databases

BioMutaiC17orf53.
DMDMi74714855.

Proteomic databases

EPDiQ8N3J3.
MaxQBiQ8N3J3.
PaxDbiQ8N3J3.
PRIDEiQ8N3J3.

Protocols and materials databases

DNASUi78995.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000245382; ENSP00000245382; ENSG00000125319. [Q8N3J3-3]
ENST00000319977; ENSP00000313500; ENSG00000125319. [Q8N3J3-1]
ENST00000585683; ENSP00000466618; ENSG00000125319. [Q8N3J3-4]
GeneIDi78995.
KEGGihsa:78995.
UCSCiuc002ifi.2. human. [Q8N3J3-1]

Organism-specific databases

CTDi78995.
GeneCardsiC17orf53.
H-InvDBHIX0013875.
HGNCiHGNC:28460. C17orf53.
HPAiHPA023004.
HPA023393.
HPA024430.
neXtProtiNX_Q8N3J3.
PharmGKBiPA142672236.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFHD. Eukaryota.
ENOG4111NPV. LUCA.
GeneTreeiENSGT00400000022305.
HOGENOMiHOG000111931.
HOVERGENiHBG099865.
InParanoidiQ8N3J3.
OMAiCTYSIVM.
OrthoDBiEOG7WX082.
PhylomeDBiQ8N3J3.
TreeFamiTF331108.

Miscellaneous databases

GenomeRNAii78995.
NextBioi67591.
PROiQ8N3J3.

Gene expression databases

BgeeiQ8N3J3.
CleanExiHS_C17orf53.
GenevisibleiQ8N3J3. HS.

Family and domain databases

InterProiIPR028045. DUF4539.
[Graphical view]
PfamiPF15072. DUF4539. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  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] (ISOFORMS 2 AND 4).
    Tissue: Embryo and Neuroepithelioma.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Melanoma.
  3. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT PRO-126.
    Tissue: Eye.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiCQ053_HUMAN
AccessioniPrimary (citable) accession number: Q8N3J3
Secondary accession number(s): A8K7A9, Q9BWM9, Q9HAI1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: October 1, 2002
Last modified: May 11, 2016
This is version 91 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.