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Protein

Transmembrane and coiled-coil domains protein 1

Gene

TMCC1

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

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172765-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane and coiled-coil domains protein 1
Gene namesi
Name:TMCC1
Synonyms:KIAA0779
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:29116. TMCC1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 591CytoplasmicSequence analysisAdd BLAST591
Transmembranei592 – 612HelicalSequence analysisAdd BLAST21
Transmembranei625 – 645HelicalSequence analysisAdd BLAST21
Topological domaini646 – 653CytoplasmicSequence analysis8

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi23023.
OpenTargetsiENSG00000172765.
PharmGKBiPA134951990.

Polymorphism and mutation databases

BioMutaiTMCC1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001845951 – 653Transmembrane and coiled-coil domains protein 1Add BLAST653

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei382PhosphoserineCombined sources1
Modified residuei414PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO94876.
MaxQBiO94876.
PaxDbiO94876.
PeptideAtlasiO94876.
PRIDEiO94876.

PTM databases

iPTMnetiO94876.
PhosphoSitePlusiO94876.

Expressioni

Gene expression databases

BgeeiENSG00000172765.
CleanExiHS_TMCC1.
ExpressionAtlasiO94876. baseline and differential.
GenevisibleiO94876. HS.

Organism-specific databases

HPAiHPA053894.

Interactioni

Subunit structurei

May form homo- or heterodimers with other TMCC proteins via the coiled-coil domains. Interacts with ribosomal proteins RPL4 and RPS6.1 Publication

Protein-protein interaction databases

BioGridi116663. 3 interactors.
IntActiO94876. 5 interactors.
STRINGi9606.ENSP00000376930.

Structurei

3D structure databases

ProteinModelPortaliO94876.
SMRiO94876.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili228 – 313Sequence analysisAdd BLAST86
Coiled coili458 – 576Sequence analysisAdd BLAST119

Sequence similaritiesi

Belongs to the TEX28 family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3850. Eukaryota.
ENOG410Y9KV. LUCA.
GeneTreeiENSGT00390000007639.
HOGENOMiHOG000294160.
HOVERGENiHBG057342.
InParanoidiO94876.
OMAiRTNTLDM.
OrthoDBiEOG091G08K8.
PhylomeDBiO94876.
TreeFamiTF316292.

Family and domain databases

InterProiIPR019394. TEX28/TMCC.
[Graphical view]
PfamiPF10267. Tmemb_cc2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O94876-1) [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
MEPSGSEQLF EDPDPGGKSQ DAEARKQTES EQKLSKMTHN ALENINVIGQ
60 70 80 90 100
GLKHLFQHQR RRSSVSPHDV QQIQADPEPE MDLESQNACA EIDGVPTHPT
110 120 130 140 150
ALNRVLQQIR VPPKMKRGTS LHSRRGKPEA PKGSPQINRK SGQEMTAVMQ
160 170 180 190 200
SGRPRSSSTT DAPTSSAMME IACAAAAAAA ACLPGEEGTA ERIERLEVSS
210 220 230 240 250
LAQTSSAVAS STDGSIHTDS VDGTPDPQRT KAAIAHLQQK ILKLTEQIKI
260 270 280 290 300
AQTARDDNVA EYLKLANSAD KQQAARIKQV FEKKNQKSAQ TILQLQKKLE
310 320 330 340 350
HYHRKLREVE QNGIPRQPKD VFRDMHQGLK DVGAKVTGFS EGVVDSVKGG
360 370 380 390 400
FSSFSQATHS AAGAVVSKPR EIASLIRNKF GSADNIPNLK DSLEEGQVDD
410 420 430 440 450
AGKALGVISN FQSSPKYGSE EDCSSATSGS VGANSTTGGI AVGASSSKTN
460 470 480 490 500
TLDMQSSGFD ALLHEIQEIR ETQARLEESF ETLKEHYQRD YSLIMQTLQE
510 520 530 540 550
ERYRCERLEE QLNDLTELHQ NEILNLKQEL ASMEEKIAYQ SYERARDIQE
560 570 580 590 600
ALEACQTRIS KMELQQQQQQ VVQLEGLENA TARNLLGKLI NILLAVMAVL
610 620 630 640 650
LVFVSTVANC VVPLMKTRNR TFSTLFLVVF IAFLWKHWDA LFSYVERFFS

SPR
Length:653
Mass (Da):72,083
Last modified:November 30, 2010 - v3
Checksum:iB9C3A26AE9583FF2
GO
Isoform 2 (identifier: O94876-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MEPSGSEQLFEDP → MVQRFSLRRQLSK
     14-192: Missing.

Note: No experimental confirmation available.
Show »
Length:474
Mass (Da):53,004
Checksum:i27C602553169ADCA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti166S → T in BAF84137 (PubMed:14702039).Curated1
Sequence conflicti639D → G in BAF84137 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047918165S → G.Combined sources3 PublicationsCorresponds to variant rs784689dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0539241 – 13MEPSG…LFEDP → MVQRFSLRRQLSK in isoform 2. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_05392514 – 192Missing in isoform 2. 1 PublicationAdd BLAST179

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK291448 mRNA. Translation: BAF84137.1.
AK293408 mRNA. Translation: BAG56915.1.
AC023162 Genomic DNA. No translation available.
AC083799 Genomic DNA. No translation available.
AC117492 Genomic DNA. No translation available.
AL449209 Genomic DNA. No translation available.
BC039859 mRNA. Translation: AAH39859.1.
CR749206 mRNA. Translation: CAH18064.2.
AB018322 mRNA. Translation: BAA34499.1.
CCDSiCCDS33855.1. [O94876-1]
RefSeqiNP_001017395.2. NM_001017395.3. [O94876-1]
NP_001121696.1. NM_001128224.2.
XP_006713605.1. XM_006713542.3. [O94876-1]
XP_006713606.1. XM_006713543.3. [O94876-1]
XP_006713607.1. XM_006713544.1. [O94876-1]
XP_011510874.1. XM_011512572.2. [O94876-1]
XP_011510875.1. XM_011512573.2. [O94876-1]
XP_011510878.1. XM_011512576.2. [O94876-1]
XP_011510881.1. XM_011512579.2. [O94876-1]
XP_011510884.1. XM_011512582.1. [O94876-2]
XP_016861420.1. XM_017005931.1. [O94876-1]
XP_016861421.1. XM_017005932.1. [O94876-1]
XP_016861422.1. XM_017005933.1. [O94876-1]
UniGeneiHs.477547.

Genome annotation databases

EnsembliENST00000393238; ENSP00000376930; ENSG00000172765. [O94876-1]
GeneIDi23023.
KEGGihsa:23023.
UCSCiuc021xdy.2. human. [O94876-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK291448 mRNA. Translation: BAF84137.1.
AK293408 mRNA. Translation: BAG56915.1.
AC023162 Genomic DNA. No translation available.
AC083799 Genomic DNA. No translation available.
AC117492 Genomic DNA. No translation available.
AL449209 Genomic DNA. No translation available.
BC039859 mRNA. Translation: AAH39859.1.
CR749206 mRNA. Translation: CAH18064.2.
AB018322 mRNA. Translation: BAA34499.1.
CCDSiCCDS33855.1. [O94876-1]
RefSeqiNP_001017395.2. NM_001017395.3. [O94876-1]
NP_001121696.1. NM_001128224.2.
XP_006713605.1. XM_006713542.3. [O94876-1]
XP_006713606.1. XM_006713543.3. [O94876-1]
XP_006713607.1. XM_006713544.1. [O94876-1]
XP_011510874.1. XM_011512572.2. [O94876-1]
XP_011510875.1. XM_011512573.2. [O94876-1]
XP_011510878.1. XM_011512576.2. [O94876-1]
XP_011510881.1. XM_011512579.2. [O94876-1]
XP_011510884.1. XM_011512582.1. [O94876-2]
XP_016861420.1. XM_017005931.1. [O94876-1]
XP_016861421.1. XM_017005932.1. [O94876-1]
XP_016861422.1. XM_017005933.1. [O94876-1]
UniGeneiHs.477547.

3D structure databases

ProteinModelPortaliO94876.
SMRiO94876.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116663. 3 interactors.
IntActiO94876. 5 interactors.
STRINGi9606.ENSP00000376930.

PTM databases

iPTMnetiO94876.
PhosphoSitePlusiO94876.

Polymorphism and mutation databases

BioMutaiTMCC1.

Proteomic databases

EPDiO94876.
MaxQBiO94876.
PaxDbiO94876.
PeptideAtlasiO94876.
PRIDEiO94876.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000393238; ENSP00000376930; ENSG00000172765. [O94876-1]
GeneIDi23023.
KEGGihsa:23023.
UCSCiuc021xdy.2. human. [O94876-1]

Organism-specific databases

CTDi23023.
DisGeNETi23023.
GeneCardsiTMCC1.
H-InvDBHIX0003672.
HGNCiHGNC:29116. TMCC1.
HPAiHPA053894.
MIMi616242. gene.
neXtProtiNX_O94876.
OpenTargetsiENSG00000172765.
PharmGKBiPA134951990.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3850. Eukaryota.
ENOG410Y9KV. LUCA.
GeneTreeiENSGT00390000007639.
HOGENOMiHOG000294160.
HOVERGENiHBG057342.
InParanoidiO94876.
OMAiRTNTLDM.
OrthoDBiEOG091G08K8.
PhylomeDBiO94876.
TreeFamiTF316292.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172765-MONOMER.

Miscellaneous databases

ChiTaRSiTMCC1. human.
GenomeRNAii23023.
PROiO94876.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172765.
CleanExiHS_TMCC1.
ExpressionAtlasiO94876. baseline and differential.
GenevisibleiO94876. HS.

Family and domain databases

InterProiIPR019394. TEX28/TMCC.
[Graphical view]
PfamiPF10267. Tmemb_cc2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTMCC1_HUMAN
AccessioniPrimary (citable) accession number: O94876
Secondary accession number(s): A8K5Y3
, B4DE04, Q68E06, Q8IXM8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2001
Last sequence update: November 30, 2010
Last modified: November 2, 2016
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 3
    Human chromosome 3: 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.