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Q9BSJ5 (CQ080_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Uncharacterized protein C17orf80
Alternative name(s):
Cell migration-inducing gene 3 protein
Human lung cancer oncogene 8 protein
Short name=HLC-8
Gene names
Name:C17orf80
ORF Names:HLC8, MIG3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length609 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Single-pass membrane protein Potential.

Sequence caution

The sequence AAP72185.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAA91344.1 differs from that shown. Reason: Frameshift at position 121.

The sequence BAB15680.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BSJ5-1)

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: Q9BSJ5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     505-540: Missing.
Isoform 3 (identifier: Q9BSJ5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     578-583: KLCRPL → LQRWRK
     584-609: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 609609Uncharacterized protein C17orf80
PRO_0000284612

Regions

Topological domain1 – 552552Extracellular Potential
Transmembrane553 – 57321Helical; Potential
Topological domain574 – 60936Cytoplasmic Potential

Natural variations

Alternative sequence505 – 54036Missing in isoform 2.
VSP_024572
Alternative sequence578 – 5836KLCRPL → LQRWRK in isoform 3.
VSP_024573
Alternative sequence584 – 60926Missing in isoform 3.
VSP_024574
Natural variant2261G → S.
Corresponds to variant rs9902726 [ dbSNP | Ensembl ].
VAR_031779
Natural variant3221K → Q.
Corresponds to variant rs34784472 [ dbSNP | Ensembl ].
VAR_031780
Natural variant3561F → L. Ref.1
Corresponds to variant rs745143 [ dbSNP | Ensembl ].
VAR_031781
Natural variant3951H → N. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6
Corresponds to variant rs904384 [ dbSNP | Ensembl ].
VAR_031782
Natural variant3961C → R. Ref.1
Corresponds to variant rs904383 [ dbSNP | Ensembl ].
VAR_031783
Natural variant4201Q → H. Ref.1 Ref.3
Corresponds to variant rs745142 [ dbSNP | Ensembl ].
VAR_031784
Natural variant5221A → T. Ref.1 Ref.3
Corresponds to variant rs1566286 [ dbSNP | Ensembl ].
VAR_031785

Experimental info

Sequence conflict331P → S in CAB66674. Ref.2
Sequence conflict4841C → R in BAB15680. Ref.4
Sequence conflict5361G → R in BAA91344. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 11, 2011. Version 2.
Checksum: 2579A2A739C10A43

FASTA60967,315
        10         20         30         40         50         60 
MSDNPPRMEV CPYCKKPFKR LKSHLPYCKM IGPTIPTDQK VYQSKPATLP RAKKMKGPIK 

        70         80         90        100        110        120 
DLIKAKGKEL ETENEERNSK LVVDKPEQTV KTFPLPAVGL ERAATTKADK DIKNPIQPSF 

       130        140        150        160        170        180 
KMLKNTKPMT TFQEETKAQF YASEKTSPKR ELAKDLPKSG ESRCNPSEAG ASLLVGSIEP 

       190        200        210        220        230        240 
SLSNQDRKYS STLPNDVQTT SGDLKLDKID PQRQELLVKL LDVPTGDCHI SPKNVSDGVK 

       250        260        270        280        290        300 
RVRTLLSNER DSKGRDHLSG VPTDVTVTET PEKNTESLIL SLKMSSLGKI QVMEKQEKGL 

       310        320        330        340        350        360 
TLGVETCGSK GNAEKSMSAT EKQERTVMSH GCENFNTRDS VTGKESQGER PHLSLFIPRE 

       370        380        390        400        410        420 
TTYQFHSVSQ SSSQSLASLA TTFLQEKKAE AQNHHCVPDV KALMESPEGQ LSLEPKSDSQ 

       430        440        450        460        470        480 
FQASHTGCQS PLCSAQRHTP QSPFTNHAAA AGRKTLRSCM GLEWFPELYP GYLGLGVLPG 

       490        500        510        520        530        540 
KPQCWNAMTQ KPQLISPQGE RLSQVSLLER SSTHIRSLEP PAGLTTSNFS LMRLLGAVQK 

       550        560        570        580        590        600 
GWIRCNTTIR KSGFGGITML FTGYFVLCCS WSFRRLKKLC RPLPWKSTVP PCIGVAKTTG 


DCRSKTCLD 

« Hide

Isoform 2 [UniParc].

Checksum: 3E1F7C5F2CC73F1E
Show »

FASTA57363,423
Isoform 3 [UniParc].

Checksum: 104961298AAB38DE
Show »

FASTA58364,726

References

[1]"Identification of a new human cancer-related gene (HLC-8)."
Kim J.W.
Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 377-609 (ISOFORM 1), VARIANTS LEU-356; ASN-395; ARG-396; HIS-420 AND THR-522.
[2]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ASN-395.
Tissue: Testis.
[3]"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. expand/collapse author list , 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 3), VARIANTS ASN-395; HIS-420 AND THR-522.
Tissue: Lung and Trachea.
[4]"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. expand/collapse author list , 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].
[5]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. expand/collapse author list , 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASN-395.
[6]"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 ASN-395.
Tissue: Kidney.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY163812 mRNA. Translation: AAO25513.1.
AY239293 mRNA. Translation: AAP72185.1. Different initiation.
AL136740 mRNA. Translation: CAB66674.1.
AK000728 mRNA. Translation: BAA91344.1. Frameshift.
AK027166 mRNA. Translation: BAB15680.1. Different initiation.
AK292838 mRNA. Translation: BAF85527.1.
AC087301 Genomic DNA. No translation available.
AC097641 Genomic DNA. No translation available.
CH471099 Genomic DNA. Translation: EAW89118.1.
BC005005 mRNA. Translation: AAH05005.1.
CCDSCCDS11694.1. [Q9BSJ5-1]
CCDS42377.1. [Q9BSJ5-2]
CCDS45767.1. [Q9BSJ5-3]
RefSeqNP_001094091.1. NM_001100621.2.
NP_001094092.1. NM_001100622.2.
NP_001275699.1. NM_001288770.1.
NP_001275700.1. NM_001288771.1.
NP_060411.2. NM_017941.5.
XP_005257544.1. XM_005257487.2. [Q9BSJ5-1]
UniGeneHs.12929.

3D structure databases

ProteinModelPortalQ9BSJ5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120358. 1 interaction.
IntActQ9BSJ5. 1 interaction.
STRING9606.ENSP00000351937.

PTM databases

PhosphoSiteQ9BSJ5.

Polymorphism databases

DMDM317373351.

Proteomic databases

MaxQBQ9BSJ5.
PaxDbQ9BSJ5.
PRIDEQ9BSJ5.

Protocols and materials databases

DNASU55028.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000268942; ENSP00000268942; ENSG00000141219. [Q9BSJ5-2]
ENST00000359042; ENSP00000351937; ENSG00000141219. [Q9BSJ5-1]
ENST00000426147; ENSP00000396970; ENSG00000141219. [Q9BSJ5-3]
ENST00000535032; ENSP00000440551; ENSG00000141219. [Q9BSJ5-1]
ENST00000577615; ENSP00000464132; ENSG00000141219. [Q9BSJ5-2]
GeneID55028.
KEGGhsa:55028.
UCSCuc002jjk.1. human. [Q9BSJ5-3]
uc002jjl.4. human. [Q9BSJ5-2]
uc002jjm.4. human. [Q9BSJ5-1]

Organism-specific databases

CTD55028.
GeneCardsGC17P071228.
HGNCHGNC:29601. C17orf80.
HPAHPA012896.
neXtProtNX_Q9BSJ5.
PharmGKBPA143485404.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG38808.
HOVERGENHBG057035.
InParanoidQ9BSJ5.
OMATMLFTGY.
OrthoDBEOG7D2FDW.
PhylomeDBQ9BSJ5.
TreeFamTF324369.

Gene expression databases

ArrayExpressQ9BSJ5.
BgeeQ9BSJ5.
CleanExHS_C17orf80.
GenevestigatorQ9BSJ5.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSC17orf80. human.
GenomeRNAi55028.
NextBio58435.

Entry information

Entry nameCQ080_HUMAN
AccessionPrimary (citable) accession number: Q9BSJ5
Secondary accession number(s): A8K9X3 expand/collapse secondary AC list , Q5JB45, Q6YAU3, Q9H0L9, Q9H5E6, Q9NWN5
Entry history
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: January 11, 2011
Last modified: July 9, 2014
This is version 83 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM