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Q8IXK2

- GLT12_HUMAN

UniProt

Q8IXK2 - GLT12_HUMAN

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Protein

Polypeptide N-acetylgalactosaminyltransferase 12

Gene

GALNT12

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

Functioni

Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays enzymatic activity toward the Gal-NAc-Muc5AC glycopeptide, but no detectable activity to mono-GalNAc-glycosylated Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynthesis in digestive organs.

Catalytic activityi

UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide.1 Publication

Cofactori

Manganese.By similarity

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei176 – 1761SubstrateBy similarity
Binding sitei205 – 2051SubstrateBy similarity
Metal bindingi228 – 2281ManganeseBy similarity
Metal bindingi230 – 2301ManganeseBy similarity
Binding sitei335 – 3351SubstrateBy similarity
Metal bindingi363 – 3631ManganeseBy similarity
Binding sitei371 – 3711SubstrateBy similarity

GO - Molecular functioni

  1. carbohydrate binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW
  3. polypeptide N-acetylgalactosaminyltransferase activity Source: UniProtKB-EC

GO - Biological processi

  1. cellular protein metabolic process Source: Reactome
  2. O-glycan processing Source: Reactome
  3. post-translational protein modification Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Lectin, Manganese, Metal-binding

Enzyme and pathway databases

BRENDAi2.4.1.41. 2681.
ReactomeiREACT_115606. O-linked glycosylation of mucins.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiCBM13. Carbohydrate-Binding Module Family 13.
GT27. Glycosyltransferase Family 27.

Names & Taxonomyi

Protein namesi
Recommended name:
Polypeptide N-acetylgalactosaminyltransferase 12 (EC:2.4.1.41)
Alternative name(s):
Polypeptide GalNAc transferase 12
Short name:
GalNAc-T12
Short name:
pp-GaNTase 12
Protein-UDP acetylgalactosaminyltransferase 12
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12
Gene namesi
Name:GALNT12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:19877. GALNT12.

Subcellular locationi

GO - Cellular componenti

  1. Golgi membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Colorectal cancer 1 (CRCS1) [MIM:608812]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.3 Publications
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. The role of GALNT12 in colon cancer susceptibility is however subject to discussion: studies on 103 probants with colorectal cancer 1 (CRCS1) suggest that it does not act as a major contributor of CRCS1 (PubMed:24115450).1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti297 – 2971R → W in CRCS1; germline mutation; partial loss of activity. 1 Publication
VAR_064357
Natural varianti303 – 3031D → N in CRCS1; germline mutation; reduction of activity. 2 Publications
Corresponds to variant rs145236923 [ dbSNP | Ensembl ].
VAR_064358
Natural varianti341 – 3411E → D in CRCS1; somatic mutation; loss of activity. 1 Publication
VAR_064359
Natural varianti373 – 3731R → H in CRCS1; germline mutation; partial loss of activity. 1 Publication
VAR_064360
Natural varianti382 – 3821R → H in CRCS1; germline mutation; loss of activity. 1 Publication
VAR_064361
Natural varianti396 – 3961Y → C in CRCS1. 1 Publication
VAR_068509
Natural varianti479 – 4791C → F in CRCS1; somatic mutation; loss of activity. 1 Publication
VAR_064362
Natural varianti491 – 4911T → M in CRCS1; germline mutation; loss of activity. 1 Publication
VAR_064363

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi608812. phenotype.
PharmGKBiPA134929192.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 581581Polypeptide N-acetylgalactosaminyltransferase 12PRO_0000059128Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi125 ↔ 358PROSITE-ProRule annotation
Disulfide bondi349 ↔ 422PROSITE-ProRule annotation
Disulfide bondi458 ↔ 479PROSITE-ProRule annotation
Disulfide bondi506 ↔ 521PROSITE-ProRule annotation
Disulfide bondi547 ↔ 566PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond

Proteomic databases

MaxQBiQ8IXK2.
PaxDbiQ8IXK2.
PRIDEiQ8IXK2.

PTM databases

PhosphoSiteiQ8IXK2.

Expressioni

Tissue specificityi

Widely expressed at different levels of expression. Highly expressed in digestive organs such as small intestine, stomach, pancreas and colon. Expressed at intermediate level in testis, thyroid gland and spleen. Weakly expressed in whole brain, cerebral cortex, cerebellum, fetal brain, bone marrow, thymus, leukocytes, heart, skeletal muscle, liver, lung, esophagus, kidney, adrenal gland, mammary gland, uterus, placenta, ovary and prostate.1 Publication

Gene expression databases

BgeeiQ8IXK2.
CleanExiHS_GALNT12.
GenevestigatoriQ8IXK2.

Organism-specific databases

HPAiHPA048292.

Interactioni

Protein-protein interaction databases

BioGridi122816. 11 interactions.
STRINGi9606.ENSP00000364150.

Structurei

3D structure databases

ProteinModelPortaliQ8IXK2.
SMRiQ8IXK2. Positions 101-576.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1919CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini38 – 581544LumenalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei20 – 3718Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini445 – 577133Ricin B-type lectinPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni135 – 244110Catalytic subdomain AAdd
BLAST
Regioni304 – 36663Catalytic subdomain BAdd
BLAST

Domaini

There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.By similarity
The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.By similarity

Sequence similaritiesi

Contains 1 ricin B-type lectin domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG239675.
GeneTreeiENSGT00760000118828.
HOGENOMiHOG000038227.
HOVERGENiHBG051699.
InParanoidiQ8IXK2.
KOiK00710.
OMAiKELYYHR.
OrthoDBiEOG7J9VP2.
PhylomeDBiQ8IXK2.
TreeFamiTF352660.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR001173. Glyco_trans_2-like.
IPR029044. Nucleotide-diphossugar_trans.
IPR000772. Ricin_B_lectin.
[Graphical view]
PfamiPF00535. Glycos_transf_2. 1 hit.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view]
SMARTiSM00458. RICIN. 1 hit.
[Graphical view]
SUPFAMiSSF50370. SSF50370. 1 hit.
SSF53448. SSF53448. 1 hit.
PROSITEiPS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8IXK2-1) [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
MWGRTARRRC PRELRRGREA LLVLLALLAL AGLGSVLRAQ RGAGAGAAEP
60 70 80 90 100
GPPRTPRPGR REPVMPRPPV PANALGARGE AVRLQLQGEE LRLQEESVRL
110 120 130 140 150
HQINIYLSDR ISLHRRLPER WNPLCKEKKY DYDNLPRTSV IIAFYNEAWS
160 170 180 190 200
TLLRTVYSVL ETSPDILLEE VILVDDYSDR EHLKERLANE LSGLPKVRLI
210 220 230 240 250
RANKREGLVR ARLLGASAAR GDVLTFLDCH CECHEGWLEP LLQRIHEEES
260 270 280 290 300
AVVCPVIDVI DWNTFEYLGN SGEPQIGGFD WRLVFTWHTV PERERIRMQS
310 320 330 340 350
PVDVIRSPTM AGGLFAVSKK YFEYLGSYDT GMEVWGGENL EFSFRIWQCG
360 370 380 390 400
GVLETHPCSH VGHVFPKQAP YSRNKALANS VRAAEVWMDE FKELYYHRNP
410 420 430 440 450
RARLEPFGDV TERKQLRDKL QCKDFKWFLE TVYPELHVPE DRPGFFGMLQ
460 470 480 490 500
NKGLTDYCFD YNPPDENQIV GHQVILYLCH GMGQNQFFEY TSQKEIRYNT
510 520 530 540 550
HQPEGCIAVE AGMDTLIMHL CEETAPENQK FILQEDGSLF HEQSKKCVQA
560 570 580
ARKESSDSFV PLLRDCTNSD HQKWFFKERM L
Length:581
Mass (Da):66,938
Last modified:December 20, 2005 - v3
Checksum:i8C001D58E103A523
GO
Isoform 2 (identifier: Q8IXK2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-309: Missing.

Note: No experimental confirmation available.

Show »
Length:272
Mass (Da):31,726
Checksum:i6E78ADD3FC84390F
GO

Sequence cautioni

The sequence BAB15027.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31G → E.1 Publication
VAR_064352
Natural varianti46 – 461G → R.1 Publication
Corresponds to variant rs10987768 [ dbSNP | Ensembl ].
VAR_064353
Natural varianti119 – 1191E → V.2 Publications
Corresponds to variant rs1137654 [ dbSNP | Ensembl ].
VAR_064354
Natural varianti261 – 2611D → N.1 Publication
Corresponds to variant rs41306504 [ dbSNP | Ensembl ].
VAR_064355
Natural varianti272 – 2721G → R.1 Publication
VAR_064356
Natural varianti297 – 2971R → W in CRCS1; germline mutation; partial loss of activity. 1 Publication
VAR_064357
Natural varianti303 – 3031D → N in CRCS1; germline mutation; reduction of activity. 2 Publications
Corresponds to variant rs145236923 [ dbSNP | Ensembl ].
VAR_064358
Natural varianti341 – 3411E → D in CRCS1; somatic mutation; loss of activity. 1 Publication
VAR_064359
Natural varianti373 – 3731R → H in CRCS1; germline mutation; partial loss of activity. 1 Publication
VAR_064360
Natural varianti382 – 3821R → H in CRCS1; germline mutation; loss of activity. 1 Publication
VAR_064361
Natural varianti396 – 3961Y → C in CRCS1. 1 Publication
VAR_068509
Natural varianti479 – 4791C → F in CRCS1; somatic mutation; loss of activity. 1 Publication
VAR_064362
Natural varianti491 – 4911T → M in CRCS1; germline mutation; loss of activity. 1 Publication
VAR_064363
Natural varianti552 – 5521R → K.1 Publication
VAR_064364

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 309309Missing in isoform 2. 1 PublicationVSP_011217Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB078146 mRNA. Translation: BAC07181.1.
AJ132365 mRNA. Translation: CAC80100.2.
AL136084 Genomic DNA. Translation: CAI17042.1.
BC013945 mRNA. Translation: AAH13945.1.
AK024865 mRNA. Translation: BAB15027.1. Different initiation.
CCDSiCCDS6737.1. [Q8IXK2-1]
RefSeqiNP_078918.3. NM_024642.4. [Q8IXK2-1]
XP_006717350.1. XM_006717287.1.
UniGeneiHs.47099.

Genome annotation databases

EnsembliENST00000375011; ENSP00000364150; ENSG00000119514. [Q8IXK2-1]
GeneIDi79695.
KEGGihsa:79695.
UCSCiuc004ayz.3. human. [Q8IXK2-1]

Polymorphism databases

DMDMi84028209.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Polypeptide N-acetylgalactosaminyltransferase 12

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB078146 mRNA. Translation: BAC07181.1 .
AJ132365 mRNA. Translation: CAC80100.2 .
AL136084 Genomic DNA. Translation: CAI17042.1 .
BC013945 mRNA. Translation: AAH13945.1 .
AK024865 mRNA. Translation: BAB15027.1 . Different initiation.
CCDSi CCDS6737.1. [Q8IXK2-1 ]
RefSeqi NP_078918.3. NM_024642.4. [Q8IXK2-1 ]
XP_006717350.1. XM_006717287.1.
UniGenei Hs.47099.

3D structure databases

ProteinModelPortali Q8IXK2.
SMRi Q8IXK2. Positions 101-576.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122816. 11 interactions.
STRINGi 9606.ENSP00000364150.

Protein family/group databases

CAZyi CBM13. Carbohydrate-Binding Module Family 13.
GT27. Glycosyltransferase Family 27.

PTM databases

PhosphoSitei Q8IXK2.

Polymorphism databases

DMDMi 84028209.

Proteomic databases

MaxQBi Q8IXK2.
PaxDbi Q8IXK2.
PRIDEi Q8IXK2.

Protocols and materials databases

DNASUi 79695.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000375011 ; ENSP00000364150 ; ENSG00000119514 . [Q8IXK2-1 ]
GeneIDi 79695.
KEGGi hsa:79695.
UCSCi uc004ayz.3. human. [Q8IXK2-1 ]

Organism-specific databases

CTDi 79695.
GeneCardsi GC09P101569.
H-InvDB HIX0008226.
HGNCi HGNC:19877. GALNT12.
HPAi HPA048292.
MIMi 608812. phenotype.
610290. gene.
neXtProti NX_Q8IXK2.
PharmGKBi PA134929192.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG239675.
GeneTreei ENSGT00760000118828.
HOGENOMi HOG000038227.
HOVERGENi HBG051699.
InParanoidi Q8IXK2.
KOi K00710.
OMAi KELYYHR.
OrthoDBi EOG7J9VP2.
PhylomeDBi Q8IXK2.
TreeFami TF352660.

Enzyme and pathway databases

UniPathwayi UPA00378 .
BRENDAi 2.4.1.41. 2681.
Reactomei REACT_115606. O-linked glycosylation of mucins.

Miscellaneous databases

GenomeRNAii 79695.
NextBioi 68982.
PROi Q8IXK2.
SOURCEi Search...

Gene expression databases

Bgeei Q8IXK2.
CleanExi HS_GALNT12.
Genevestigatori Q8IXK2.

Family and domain databases

Gene3Di 3.90.550.10. 1 hit.
InterProi IPR001173. Glyco_trans_2-like.
IPR029044. Nucleotide-diphossugar_trans.
IPR000772. Ricin_B_lectin.
[Graphical view ]
Pfami PF00535. Glycos_transf_2. 1 hit.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view ]
SMARTi SM00458. RICIN. 1 hit.
[Graphical view ]
SUPFAMi SSF50370. SSF50370. 1 hit.
SSF53448. SSF53448. 1 hit.
PROSITEi PS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of a novel member of the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase family, pp-GalNAc-T12(1)."
    Guo J.-M., Zhang Y., Cheng L., Iwasaki H., Wang H., Kubota T., Tachibana K., Narimatsu H.
    FEBS Lett. 524:211-218(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME ACTIVITY, TISSUE SPECIFICITY, VARIANT VAL-119.
    Tissue: Lung.
  2. Bennett E.P.
    Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [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 2).
    Tissue: Bone marrow.
  5. "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] OF 144-581 (ISOFORM 1).
    Tissue: Colon.
  6. Cited for: VARIANTS CRCS1 TRP-297; ASN-303; ASP-341; HIS-373; HIS-382; PHE-479 AND MET-491, CHARACTERIZATION OF VARIANTS CRCS1 TRP-297; ASN-303; ASP-341; HIS-373; HIS-382; PHE-479 AND MET-491, VARIANTS GLU-3; ARG-46; VAL-119; ASN-261; ARG-272 AND LYS-552.
  7. "Inherited deleterious variants in GALNT12 are associated with CRC susceptibility."
    Clarke E., Green R.C., Green J.S., Mahoney K., Parfrey P.S., Younghusband H.B., Woods M.O.
    Hum. Mutat. 33:1056-1058(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CRCS1 ASN-303 AND CYS-396.
  8. "GALNT12 is not a major contributor of familial colorectal cancer type X."
    Segui N., Pineda M., Navarro M., Lazaro C., Brunet J., Infante M., Duran M., Soto J.L., Blanco I., Capella G., Valle L.
    Hum. Mutat. 35:50-52(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CRCS1.

Entry informationi

Entry nameiGLT12_HUMAN
AccessioniPrimary (citable) accession number: Q8IXK2
Secondary accession number(s): Q5TCF7
, Q8NG54, Q96CT9, Q9H771
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: December 20, 2005
Last modified: October 29, 2014
This is version 120 of the entry and version 3 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 9
    Human chromosome 9: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

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