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Q8N2G8 (GHDC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 87. 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:
GH3 domain-containing protein
Gene names
Name:GHDC
Synonyms:D11LGP1E, LGP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length530 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Endoplasmic reticulum. Nucleus envelope By similarity.

Sequence similarities

Belongs to the GH3 family.

Ontologies

Keywords
   Cellular componentEndoplasmic reticulum
Nucleus
   Coding sequence diversityAlternative splicing
   DomainSignal
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentendoplasmic reticulum

Inferred from electronic annotation. Source: UniProtKB-SubCell

nuclear envelope

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N2G8-1)

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: Q8N2G8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     430-474: DSSAGSAPHY...EASPRYKSLR → EWGRTDRAED...LLPTTRCLWR
     475-530: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8N2G8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     101-139: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1717 Potential
Chain18 – 530513GH3 domain-containing protein
PRO_0000021593

Amino acid modifications

Glycosylation4501N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence101 – 13939Missing in isoform 3.
VSP_044831
Alternative sequence430 – 47445DSSAG…YKSLR → EWGRTDRAEDTRLGSCPFTG SMCAHGVYSQIPLRALLPTT RCLWR in isoform 2.
VSP_010835
Alternative sequence475 – 53056Missing in isoform 2.
VSP_010836

Experimental info

Sequence conflict4201D → G in BAC11514. Ref.2

Sequences

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

Last modified July 19, 2004. Version 2.
Checksum: BC0D92AC78889C16

FASTA53057,523
        10         20         30         40         50         60 
MLLWPLLLLL LLLPTLALLR QQRSQDARLS WLAGLQHRVA WGALVWAATW QRRRLEQSTL 

        70         80         90        100        110        120 
HVHQSQQQAL RWCLQGAQRP HCSLRRSTDI STFRNHLPLT KASQTQQEDS GEQPLPPTSN 

       130        140        150        160        170        180 
QDLGEASLQA TLLGLAALNK AYPEVLAQGR TARVTLTSPW PRPLPWPGNT LGQVGTPGTK 

       190        200        210        220        230        240 
DPRALLLDAL RSPGLRALEA GTAVELLDVF LGLETDGEEL AGAIAAGNPG APLRERAAEL 

       250        260        270        280        290        300 
REALEQGPRG LALRLWPKLQ VVVTLDAGGQ AEAVAALGAL WCQGLAFFSP AYAASGGVLG 

       310        320        330        340        350        360 
LNLQPEQPHG LYLLPPGAPF IELLPVKEGT QEEAASTLLL AEAQQGKEYE LVLTDRASLT 

       370        380        390        400        410        420 
RCRLGDVVRV VGAYNQCPVV RFICRLDQTL SVRGEDIGED LFSEALGRAV GQWAGAKLLD 

       430        440        450        460        470        480 
HGCVESSILD SSAGSAPHYE VFVALRGLRN LSEENRDKLD HCLQEASPRY KSLRFWGSVG 

       490        500        510        520        530 
PARVHLVGQG AFRALRAALA ACPSSPFPPA MPRVLRHRHL AQCLQERVVS 

« Hide

Isoform 2 [UniParc].

Checksum: C790C90825214706
Show »

FASTA47451,460
Isoform 3 [UniParc].

Checksum: BF8D94485DD5F2BC
Show »

FASTA49153,519

References

« Hide 'large scale' references
[1]"Structure of the mouse Stat 3/5 locus: evolution from Drosophila to zebrafish to mouse."
Miyoshi K., Cui Y., Riedlinger G., Robinson P., Lehoczky J., Zon L., Oka T., Dewar K., Hennighausen L.
Genomics 71:150-155(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"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 1; 2 AND 3).
Tissue: Mammary gland and Thyroid.
[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. 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].
[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 1).
Tissue: Colon.
[5]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF316997 mRNA. Translation: AAK15472.1.
AK074700 mRNA. Translation: BAC11146.1.
AK075277 mRNA. Translation: BAC11514.1.
AK298933 mRNA. Translation: BAG61036.1.
AC099811 Genomic DNA. No translation available.
BC022784 mRNA. Translation: AAH22784.1.
CCDSCCDS11422.1. [Q8N2G8-1]
CCDS45681.1. [Q8N2G8-3]
CCDS45682.1. [Q8N2G8-2]
RefSeqNP_001136094.1. NM_001142622.1. [Q8N2G8-3]
NP_001136095.1. NM_001142623.1. [Q8N2G8-2]
NP_115873.1. NM_032484.4. [Q8N2G8-1]
UniGeneHs.38039.

3D structure databases

ProteinModelPortalQ8N2G8.
SMRQ8N2G8. Positions 230-507.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000301671.

PTM databases

PhosphoSiteQ8N2G8.

Polymorphism databases

DMDM50401069.

Proteomic databases

MaxQBQ8N2G8.
PaxDbQ8N2G8.
PRIDEQ8N2G8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000301671; ENSP00000301671; ENSG00000167925. [Q8N2G8-1]
ENST00000414034; ENSP00000399952; ENSG00000167925. [Q8N2G8-2]
ENST00000428494; ENSP00000410945; ENSG00000167925. [Q8N2G8-3]
ENST00000436923; ENSP00000402654; ENSG00000167925. [Q8N2G8-2]
ENST00000587427; ENSP00000467585; ENSG00000167925. [Q8N2G8-1]
GeneID84514.
KEGGhsa:84514.
UCSCuc002hzd.3. human. [Q8N2G8-1]
uc002hze.4. human. [Q8N2G8-2]

Organism-specific databases

CTD84514.
GeneCardsGC17M040341.
HGNCHGNC:24438. GHDC.
HPAHPA031650.
MIM608587. gene.
neXtProtNX_Q8N2G8.
PharmGKBPA147358034.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG86848.
HOGENOMHOG000230989.
HOVERGENHBG080045.
InParanoidQ8N2G8.
OMARYKSLRF.
OrthoDBEOG7HQN7M.
PhylomeDBQ8N2G8.
TreeFamTF333007.

Gene expression databases

ArrayExpressQ8N2G8.
BgeeQ8N2G8.
CleanExHS_GHDC.
GenevestigatorQ8N2G8.

Family and domain databases

InterProIPR004993. GH3.
[Graphical view]
PfamPF03321. GH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi84514.
NextBio74312.
PROQ8N2G8.
SOURCESearch...

Entry information

Entry nameGHDC_HUMAN
AccessionPrimary (citable) accession number: Q8N2G8
Secondary accession number(s): B4DQS4, E9PDB5, Q9BXM6
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 19, 2004
Last modified: July 9, 2014
This is version 87 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 17

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