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Protein

Glycosyltransferase-like domain-containing protein 1

Gene

GTDC1

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

Functioni

GO - Molecular functioni

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Protein family/group databases

CAZyiGT4. Glycosyltransferase Family 4.

Names & Taxonomyi

Protein namesi
Recommended name:
Glycosyltransferase-like domain-containing protein 1
Alternative name(s):
Mannosyltransferase-like protein Xa1 Publication
Mat-Xa1 Publication
Gene namesi
Name:GTDC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:20887. GTDC1.

Pathology & Biotechi

Organism-specific databases

DisGeNETi79712.
OpenTargetsiENSG00000121964.
PharmGKBiPA134892601.

Polymorphism and mutation databases

BioMutaiGTDC1.
DMDMi121946960.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003110881 – 458Glycosyltransferase-like domain-containing protein 1Add BLAST458

Proteomic databases

EPDiQ4AE62.
MaxQBiQ4AE62.
PaxDbiQ4AE62.
PeptideAtlasiQ4AE62.
PRIDEiQ4AE62.

PTM databases

iPTMnetiQ4AE62.
PhosphoSitePlusiQ4AE62.

Expressioni

Tissue specificityi

Ubiquitous. Expressed at high levels in the lung, brain, spleen, testis, placenta. ovary, pancreas, spleen and peripheral blood leukocytes. Expressed at low level in the colon, small intestine, kidney, skeletal muscle and thymus. Expressed at high level in colon adenocarcinoma.2 Publications

Gene expression databases

BgeeiENSG00000121964.
CleanExiHS_GTDC1.
ExpressionAtlasiQ4AE62. baseline and differential.
GenevisibleiQ4AE62. HS.

Organism-specific databases

HPAiHPA036694.

Interactioni

Protein-protein interaction databases

BioGridi122829. 1 interactor.

Structurei

3D structure databases

ProteinModelPortaliQ4AE62.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiENOG410IICG. Eukaryota.
ENOG410ZWWX. LUCA.
GeneTreeiENSGT00390000006631.
HOVERGENiHBG106976.
InParanoidiQ4AE62.
OMAiPDVSRFM.
OrthoDBiEOG091G08MX.
PhylomeDBiQ4AE62.
TreeFamiTF324818.

Family and domain databases

InterProiView protein in InterPro
IPR001296. Glyco_trans_1.
IPR022701. GlycosylTrfase_1_N.
PfamiView protein in Pfam
PF12038. DUF3524. 1 hit.
PF00534. Glycos_transf_1. 1 hit.

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q4AE62-1) [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
MSILIIEAFY GGSHKQLVDL LQEELGDCVV YTLPAKKWHW RARTSALYFS
60 70 80 90 100
QTIPISEHYR TLFASSVLNL TELAALRPDL GKLKKILYFH ENQLIYPVKK
110 120 130 140 150
CQERDFQYGY NQILSCLVAD VVVFNSVFNM ESFLTSMGKF MKLIPDHRPK
160 170 180 190 200
DLESIIRPKC QVIYFPIRFP DVSRFMPKHK TTHLKKMLGL KGNGGAVLSM
210 220 230 240 250
ALPFQPEQRD SEDLLKNFNS ECDTHCGLDT ARQEYLGNSL RQESDLKKST
260 270 280 290 300
SSDNSSSHHG ENKQNLTVDP CDILGGVDNQ QRLLHIVWPH RWEHDKDPES
310 320 330 340 350
FFKVLMHLKD LGLNFHVSVL GETFTDVPDI FSEAKKALGS SVLHWGYLPS
360 370 380 390 400
KDDYFQVLCM ADVVISTAKH EFFGVAMLEA VYCGCYPLCP KDLVYPEIFP
410 420 430 440 450
AEYLYSTPEQ LSKRLQNFCK RPDIIRKHLY KGEIAPFSWA ALHGKFRSLL

TTEPREDL
Length:458
Mass (Da):52,597
Last modified:September 13, 2005 - v1
Checksum:iC1B4BCD52B354A72
GO
Isoform 2 (identifier: Q4AE62-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     293-377: Missing.

Show »
Length:373
Mass (Da):43,037
Checksum:i4C74F018A45D7D9D
GO
Isoform 3 (identifier: Q4AE62-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     293-458: Missing.

Show »
Length:292
Mass (Da):33,576
Checksum:i9C0E3C895DF5528C
GO
Isoform 4 (identifier: Q4AE62-4) [UniParc]FASTAAdd to basket
Also known as: c

The sequence of this isoform differs from the canonical sequence as follows:
     329-376: DIFSEAKKAL...TAKHEFFGVA → GWKLCTVGVT...SRISARDQIL
     377-458: Missing.

Note: No experimental confirmation available.
Show »
Length:376
Mass (Da):43,316
Checksum:iC5EA3CF062C9E077
GO
Isoform 5 (identifier: Q4AE62-5) [UniParc]FASTAAdd to basket
Also known as: f

The sequence of this isoform differs from the canonical sequence as follows:
     1-59: MSILIIEAFY...SQTIPISEHY → MLTLHVWIWFGFMPCPNLMQNYNHQCC

Note: No experimental confirmation available.
Show »
Length:426
Mass (Da):49,070
Checksum:i3D4A7CECA16FB9F1
GO
Isoform 6 (identifier: Q4AE62-6) [UniParc]FASTAAdd to basket
Also known as: d

The sequence of this isoform differs from the canonical sequence as follows:
     1-129: Missing.

Note: No experimental confirmation available.
Show »
Length:329
Mass (Da):37,681
Checksum:iCF4CE22B171213F9
GO

Sequence cautioni

The sequence AAX93131 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB13904 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037136137M → I2 PublicationsCorresponds to variant dbSNP:rs3731958Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0575961 – 129Missing in isoform 6. Add BLAST129
Alternative sequenceiVSP_0575971 – 59MSILI…ISEHY → MLTLHVWIWFGFMPCPNLMQ NYNHQCC in isoform 5. Add BLAST59
Alternative sequenceiVSP_029378293 – 458Missing in isoform 3. 1 PublicationAdd BLAST166
Alternative sequenceiVSP_029379293 – 377Missing in isoform 2. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_057598329 – 376DIFSE…FFGVA → GWKLCTVGVTHFVLKIWFIP KYFQLNICILHLNSFQKGSR ISARDQIL in isoform 4. Add BLAST48
Alternative sequenceiVSP_057599377 – 458Missing in isoform 4. Add BLAST82

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY281366 mRNA. Translation: AAQ16408.1.
AB597184 mRNA. Translation: BAK74843.1.
AB201269 mRNA. Translation: BAE16560.1.
AK021815 mRNA. Translation: BAB13904.1. Different initiation.
AK291357 mRNA. Translation: BAF84046.1.
AC009957 Genomic DNA. No translation available.
AC010130 Genomic DNA. No translation available.
AC010681 Genomic DNA. Translation: AAX93131.1. Different initiation.
AC016910 Genomic DNA. Translation: AAY14764.1.
CH471058 Genomic DNA. Translation: EAX11579.1.
CH471058 Genomic DNA. Translation: EAX11580.1.
CH471058 Genomic DNA. Translation: EAX11581.1.
CH471058 Genomic DNA. Translation: EAX11582.1.
CH471058 Genomic DNA. Translation: EAX11583.1.
CH471058 Genomic DNA. Translation: EAX11584.1.
CH471058 Genomic DNA. Translation: EAX11585.1.
BC017741 mRNA. Translation: AAH17741.1.
BC061699 mRNA. Translation: AAH61699.1.
CCDSiCCDS2185.1. [Q4AE62-2]
CCDS33300.1. [Q4AE62-1]
CCDS63029.1. [Q4AE62-4]
CCDS74582.1. [Q4AE62-6]
CCDS74583.1. [Q4AE62-5]
RefSeqiNP_001006637.1. NM_001006636.3. [Q4AE62-1]
NP_001158101.1. NM_001164629.3. [Q4AE62-1]
NP_001271162.1. NM_001284233.1. [Q4AE62-4]
NP_001271163.1. NM_001284234.1. [Q4AE62-6]
NP_001271164.1. NM_001284235.1. [Q4AE62-3]
NP_001271167.1. NM_001284238.1. [Q4AE62-5]
NP_078935.2. NM_024659.4. [Q4AE62-2]
XP_016860416.1. XM_017004927.1. [Q4AE62-1]
XP_016860417.1. XM_017004928.1. [Q4AE62-1]
XP_016860418.1. XM_017004929.1. [Q4AE62-1]
XP_016860419.1. XM_017004930.1. [Q4AE62-1]
XP_016860420.1. XM_017004931.1. [Q4AE62-1]
XP_016860421.1. XM_017004932.1. [Q4AE62-1]
XP_016860422.1. XM_017004933.1. [Q4AE62-1]
XP_016860423.1. XM_017004934.1. [Q4AE62-1]
XP_016860424.1. XM_017004935.1. [Q4AE62-1]
XP_016860425.1. XM_017004936.1. [Q4AE62-1]
XP_016860431.1. XM_017004942.1. [Q4AE62-4]
XP_016860432.1. XM_017004943.1. [Q4AE62-4]
XP_016860433.1. XM_017004944.1. [Q4AE62-2]
XP_016860434.1. XM_017004945.1. [Q4AE62-2]
XP_016860435.1. XM_017004946.1. [Q4AE62-2]
XP_016860436.1. XM_017004947.1. [Q4AE62-2]
XP_016860437.1. XM_017004948.1. [Q4AE62-2]
UniGeneiHs.44780.
Hs.724028.
Hs.724030.
Hs.724213.

Genome annotation databases

EnsembliENST00000241391; ENSP00000241391; ENSG00000121964. [Q4AE62-4]
ENST00000344850; ENSP00000339750; ENSG00000121964. [Q4AE62-1]
ENST00000392867; ENSP00000376606; ENSG00000121964. [Q4AE62-2]
ENST00000392869; ENSP00000376608; ENSG00000121964. [Q4AE62-1]
ENST00000392871; ENSP00000376610; ENSG00000121964. [Q4AE62-4]
ENST00000409214; ENSP00000386581; ENSG00000121964. [Q4AE62-1]
ENST00000463875; ENSP00000437964; ENSG00000121964. [Q4AE62-6]
ENST00000542155; ENSP00000438323; ENSG00000121964. [Q4AE62-1]
ENST00000618778; ENSP00000484990; ENSG00000121964. [Q4AE62-5]
GeneIDi79712.
KEGGihsa:79712.
UCSCiuc002tvo.4. human.
uc002tvp.4. human. [Q4AE62-1]
uc010fno.5. human.
uc061ofi.1. human.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY281366 mRNA. Translation: AAQ16408.1.
AB597184 mRNA. Translation: BAK74843.1.
AB201269 mRNA. Translation: BAE16560.1.
AK021815 mRNA. Translation: BAB13904.1. Different initiation.
AK291357 mRNA. Translation: BAF84046.1.
AC009957 Genomic DNA. No translation available.
AC010130 Genomic DNA. No translation available.
AC010681 Genomic DNA. Translation: AAX93131.1. Different initiation.
AC016910 Genomic DNA. Translation: AAY14764.1.
CH471058 Genomic DNA. Translation: EAX11579.1.
CH471058 Genomic DNA. Translation: EAX11580.1.
CH471058 Genomic DNA. Translation: EAX11581.1.
CH471058 Genomic DNA. Translation: EAX11582.1.
CH471058 Genomic DNA. Translation: EAX11583.1.
CH471058 Genomic DNA. Translation: EAX11584.1.
CH471058 Genomic DNA. Translation: EAX11585.1.
BC017741 mRNA. Translation: AAH17741.1.
BC061699 mRNA. Translation: AAH61699.1.
CCDSiCCDS2185.1. [Q4AE62-2]
CCDS33300.1. [Q4AE62-1]
CCDS63029.1. [Q4AE62-4]
CCDS74582.1. [Q4AE62-6]
CCDS74583.1. [Q4AE62-5]
RefSeqiNP_001006637.1. NM_001006636.3. [Q4AE62-1]
NP_001158101.1. NM_001164629.3. [Q4AE62-1]
NP_001271162.1. NM_001284233.1. [Q4AE62-4]
NP_001271163.1. NM_001284234.1. [Q4AE62-6]
NP_001271164.1. NM_001284235.1. [Q4AE62-3]
NP_001271167.1. NM_001284238.1. [Q4AE62-5]
NP_078935.2. NM_024659.4. [Q4AE62-2]
XP_016860416.1. XM_017004927.1. [Q4AE62-1]
XP_016860417.1. XM_017004928.1. [Q4AE62-1]
XP_016860418.1. XM_017004929.1. [Q4AE62-1]
XP_016860419.1. XM_017004930.1. [Q4AE62-1]
XP_016860420.1. XM_017004931.1. [Q4AE62-1]
XP_016860421.1. XM_017004932.1. [Q4AE62-1]
XP_016860422.1. XM_017004933.1. [Q4AE62-1]
XP_016860423.1. XM_017004934.1. [Q4AE62-1]
XP_016860424.1. XM_017004935.1. [Q4AE62-1]
XP_016860425.1. XM_017004936.1. [Q4AE62-1]
XP_016860431.1. XM_017004942.1. [Q4AE62-4]
XP_016860432.1. XM_017004943.1. [Q4AE62-4]
XP_016860433.1. XM_017004944.1. [Q4AE62-2]
XP_016860434.1. XM_017004945.1. [Q4AE62-2]
XP_016860435.1. XM_017004946.1. [Q4AE62-2]
XP_016860436.1. XM_017004947.1. [Q4AE62-2]
XP_016860437.1. XM_017004948.1. [Q4AE62-2]
UniGeneiHs.44780.
Hs.724028.
Hs.724030.
Hs.724213.

3D structure databases

ProteinModelPortaliQ4AE62.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122829. 1 interactor.

Protein family/group databases

CAZyiGT4. Glycosyltransferase Family 4.

PTM databases

iPTMnetiQ4AE62.
PhosphoSitePlusiQ4AE62.

Polymorphism and mutation databases

BioMutaiGTDC1.
DMDMi121946960.

Proteomic databases

EPDiQ4AE62.
MaxQBiQ4AE62.
PaxDbiQ4AE62.
PeptideAtlasiQ4AE62.
PRIDEiQ4AE62.

Protocols and materials databases

DNASUi79712.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000241391; ENSP00000241391; ENSG00000121964. [Q4AE62-4]
ENST00000344850; ENSP00000339750; ENSG00000121964. [Q4AE62-1]
ENST00000392867; ENSP00000376606; ENSG00000121964. [Q4AE62-2]
ENST00000392869; ENSP00000376608; ENSG00000121964. [Q4AE62-1]
ENST00000392871; ENSP00000376610; ENSG00000121964. [Q4AE62-4]
ENST00000409214; ENSP00000386581; ENSG00000121964. [Q4AE62-1]
ENST00000463875; ENSP00000437964; ENSG00000121964. [Q4AE62-6]
ENST00000542155; ENSP00000438323; ENSG00000121964. [Q4AE62-1]
ENST00000618778; ENSP00000484990; ENSG00000121964. [Q4AE62-5]
GeneIDi79712.
KEGGihsa:79712.
UCSCiuc002tvo.4. human.
uc002tvp.4. human. [Q4AE62-1]
uc010fno.5. human.
uc061ofi.1. human.

Organism-specific databases

CTDi79712.
DisGeNETi79712.
GeneCardsiGTDC1.
H-InvDBiHIX0002488.
HGNCiHGNC:20887. GTDC1.
HPAiHPA036694.
MIMi610165. gene.
neXtProtiNX_Q4AE62.
OpenTargetsiENSG00000121964.
PharmGKBiPA134892601.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IICG. Eukaryota.
ENOG410ZWWX. LUCA.
GeneTreeiENSGT00390000006631.
HOVERGENiHBG106976.
InParanoidiQ4AE62.
OMAiPDVSRFM.
OrthoDBiEOG091G08MX.
PhylomeDBiQ4AE62.
TreeFamiTF324818.

Miscellaneous databases

ChiTaRSiGTDC1. human.
GenomeRNAii79712.
PROiPR:Q4AE62.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000121964.
CleanExiHS_GTDC1.
ExpressionAtlasiQ4AE62. baseline and differential.
GenevisibleiQ4AE62. HS.

Family and domain databases

InterProiView protein in InterPro
IPR001296. Glyco_trans_1.
IPR022701. GlycosylTrfase_1_N.
PfamiView protein in Pfam
PF12038. DUF3524. 1 hit.
PF00534. Glycos_transf_1. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiGTDC1_HUMAN
AccessioniPrimary (citable) accession number: Q4AE62
Secondary accession number(s): A0A087X2H5
, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: September 13, 2005
Last modified: June 7, 2017
This is version 103 of the entry and version 1 of the sequence. See 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 2
    Human chromosome 2: 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
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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.