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Q8N2G8

- GHDC_HUMAN

UniProt

Q8N2G8 - GHDC_HUMAN

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Protein

GH3 domain-containing protein

Gene

GHDC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
GH3 domain-containing protein
Gene namesi
Name:GHDC
Synonyms:D11LGP1E, LGP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:24438. GHDC.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-KW
  2. membrane Source: UniProtKB
  3. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA147358034.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1717Sequence AnalysisAdd
BLAST
Chaini18 – 530513GH3 domain-containing proteinPRO_0000021593Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi450 – 4501N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8N2G8.
PaxDbiQ8N2G8.
PRIDEiQ8N2G8.

PTM databases

PhosphoSiteiQ8N2G8.

Expressioni

Gene expression databases

BgeeiQ8N2G8.
CleanExiHS_GHDC.
ExpressionAtlasiQ8N2G8. baseline and differential.
GenevestigatoriQ8N2G8.

Organism-specific databases

HPAiHPA031650.

Interactioni

Protein-protein interaction databases

BioGridi124108. 9 interactions.
STRINGi9606.ENSP00000301671.

Structurei

3D structure databases

ProteinModelPortaliQ8N2G8.
SMRiQ8N2G8. Positions 230-530.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GH3 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG86848.
GeneTreeiENSGT00390000016401.
HOGENOMiHOG000230989.
HOVERGENiHBG080045.
InParanoidiQ8N2G8.
OMAiRYKSLRF.
OrthoDBiEOG7HQN7M.
PhylomeDBiQ8N2G8.
TreeFamiTF333007.

Family and domain databases

InterProiIPR004993. GH3.
[Graphical view]
PfamiPF03321. GH3. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N2G8-1) [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
MLLWPLLLLL LLLPTLALLR QQRSQDARLS WLAGLQHRVA WGALVWAATW
60 70 80 90 100
QRRRLEQSTL HVHQSQQQAL RWCLQGAQRP HCSLRRSTDI STFRNHLPLT
110 120 130 140 150
KASQTQQEDS GEQPLPPTSN QDLGEASLQA TLLGLAALNK AYPEVLAQGR
160 170 180 190 200
TARVTLTSPW PRPLPWPGNT LGQVGTPGTK DPRALLLDAL RSPGLRALEA
210 220 230 240 250
GTAVELLDVF LGLETDGEEL AGAIAAGNPG APLRERAAEL REALEQGPRG
260 270 280 290 300
LALRLWPKLQ VVVTLDAGGQ AEAVAALGAL WCQGLAFFSP AYAASGGVLG
310 320 330 340 350
LNLQPEQPHG LYLLPPGAPF IELLPVKEGT QEEAASTLLL AEAQQGKEYE
360 370 380 390 400
LVLTDRASLT RCRLGDVVRV VGAYNQCPVV RFICRLDQTL SVRGEDIGED
410 420 430 440 450
LFSEALGRAV GQWAGAKLLD HGCVESSILD SSAGSAPHYE VFVALRGLRN
460 470 480 490 500
LSEENRDKLD HCLQEASPRY KSLRFWGSVG PARVHLVGQG AFRALRAALA
510 520 530
ACPSSPFPPA MPRVLRHRHL AQCLQERVVS
Length:530
Mass (Da):57,523
Last modified:July 19, 2004 - v2
Checksum:iBC0D92AC78889C16
GO
Isoform 2 (identifier: Q8N2G8-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:474
Mass (Da):51,460
Checksum:iC790C90825214706
GO
Isoform 3 (identifier: Q8N2G8-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-139: Missing.

Note: No experimental confirmation available.

Show »
Length:491
Mass (Da):53,519
Checksum:iBF8D94485DD5F2BC
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti420 – 4201D → G in BAC11514. (PubMed:14702039)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei101 – 13939Missing in isoform 3. 1 PublicationVSP_044831Add
BLAST
Alternative sequencei430 – 47445DSSAG…YKSLR → EWGRTDRAEDTRLGSCPFTG SMCAHGVYSQIPLRALLPTT RCLWR in isoform 2. 1 PublicationVSP_010835Add
BLAST
Alternative sequencei475 – 53056Missing in isoform 2. 1 PublicationVSP_010836Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS11422.1. [Q8N2G8-1]
CCDS45682.1. [Q8N2G8-2]
RefSeqiNP_001136094.1. NM_001142622.1. [Q8N2G8-3]
NP_001136095.1. NM_001142623.1. [Q8N2G8-2]
NP_115873.1. NM_032484.4. [Q8N2G8-1]
UniGeneiHs.38039.

Genome annotation databases

EnsembliENST00000301671; ENSP00000301671; ENSG00000167925. [Q8N2G8-1]
ENST00000414034; ENSP00000399952; ENSG00000167925. [Q8N2G8-2]
ENST00000428494; ENSP00000410945; ENSG00000167925. [Q8N2G8-2]
ENST00000587427; ENSP00000467585; ENSG00000167925. [Q8N2G8-1]
GeneIDi84514.
KEGGihsa:84514.
UCSCiuc002hzd.3. human. [Q8N2G8-1]
uc002hze.4. human. [Q8N2G8-2]

Polymorphism databases

DMDMi50401069.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS11422.1. [Q8N2G8-1 ]
CCDS45682.1. [Q8N2G8-2 ]
RefSeqi NP_001136094.1. NM_001142622.1. [Q8N2G8-3 ]
NP_001136095.1. NM_001142623.1. [Q8N2G8-2 ]
NP_115873.1. NM_032484.4. [Q8N2G8-1 ]
UniGenei Hs.38039.

3D structure databases

ProteinModelPortali Q8N2G8.
SMRi Q8N2G8. Positions 230-530.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124108. 9 interactions.
STRINGi 9606.ENSP00000301671.

PTM databases

PhosphoSitei Q8N2G8.

Polymorphism databases

DMDMi 50401069.

Proteomic databases

MaxQBi Q8N2G8.
PaxDbi Q8N2G8.
PRIDEi Q8N2G8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000301671 ; ENSP00000301671 ; ENSG00000167925 . [Q8N2G8-1 ]
ENST00000414034 ; ENSP00000399952 ; ENSG00000167925 . [Q8N2G8-2 ]
ENST00000428494 ; ENSP00000410945 ; ENSG00000167925 . [Q8N2G8-2 ]
ENST00000587427 ; ENSP00000467585 ; ENSG00000167925 . [Q8N2G8-1 ]
GeneIDi 84514.
KEGGi hsa:84514.
UCSCi uc002hzd.3. human. [Q8N2G8-1 ]
uc002hze.4. human. [Q8N2G8-2 ]

Organism-specific databases

CTDi 84514.
GeneCardsi GC17M040341.
HGNCi HGNC:24438. GHDC.
HPAi HPA031650.
MIMi 608587. gene.
neXtProti NX_Q8N2G8.
PharmGKBi PA147358034.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG86848.
GeneTreei ENSGT00390000016401.
HOGENOMi HOG000230989.
HOVERGENi HBG080045.
InParanoidi Q8N2G8.
OMAi RYKSLRF.
OrthoDBi EOG7HQN7M.
PhylomeDBi Q8N2G8.
TreeFami TF333007.

Miscellaneous databases

GenomeRNAii 84514.
NextBioi 74312.
PROi Q8N2G8.
SOURCEi Search...

Gene expression databases

Bgeei Q8N2G8.
CleanExi HS_GHDC.
ExpressionAtlasi Q8N2G8. baseline and differential.
Genevestigatori Q8N2G8.

Family and domain databases

InterProi IPR004993. GH3.
[Graphical view ]
Pfami PF03321. GH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiGHDC_HUMAN
AccessioniPrimary (citable) accession number: Q8N2G8
Secondary accession number(s): B4DQS4, E9PDB5, Q9BXM6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 19, 2004
Last modified: October 29, 2014
This is version 89 of the entry and version 2 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3