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Protein

Clathrin heavy chain linker domain-containing protein 1

Gene

CLHC1

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

Names & Taxonomyi

Protein namesi
Recommended name:
Clathrin heavy chain linker domain-containing protein 1
Gene namesi
Name:CLHC1
Synonyms:C2orf63
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:26453. CLHC1.

Pathology & Biotechi

Organism-specific databases

DisGeNETi130162.
OpenTargetsiENSG00000162994.
PharmGKBiPA162379359.

Polymorphism and mutation databases

BioMutaiCLHC1.
DMDMi317373465.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003258701 – 586Clathrin heavy chain linker domain-containing protein 1Add BLAST586

Proteomic databases

PaxDbiQ8NHS4.
PRIDEiQ8NHS4.

PTM databases

iPTMnetiQ8NHS4.
PhosphoSitePlusiQ8NHS4.

Expressioni

Gene expression databases

BgeeiENSG00000162994.
CleanExiHS_C2orf63.
ExpressionAtlasiQ8NHS4. baseline and differential.
GenevisibleiQ8NHS4. HS.

Organism-specific databases

HPAiHPA045418.
HPA053557.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP170P1Q96L143EBI-10203156,EBI-743488
LMO2P257913EBI-10203156,EBI-739696
SGF29Q96ES73EBI-10203156,EBI-743117

Protein-protein interaction databases

BioGridi126226. 4 interactors.
IntActiQ8NHS4. 3 interactors.
STRINGi9606.ENSP00000384869.

Structurei

3D structure databases

ProteinModelPortaliQ8NHS4.
SMRiQ8NHS4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili174 – 232Sequence analysisAdd BLAST59

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0985. Eukaryota.
ENOG410XPH1. LUCA.
GeneTreeiENSGT00390000016690.
HOGENOMiHOG000060111.
HOVERGENiHBG107579.
InParanoidiQ8NHS4.
OMAiANICLQN.
OrthoDBiEOG091G0DQU.
PhylomeDBiQ8NHS4.
TreeFamiTF328858.

Family and domain databases

Gene3Di1.25.40.30. 2 hits.
InterProiIPR016024. ARM-type_fold.
IPR012331. Clathrin_H-chain_linker.
IPR017212. Clathrin_heavy-chain-rel.
IPR032755. TSNAXIP1_N.
[Graphical view]
PfamiPF15739. TSNAXIP1_N. 1 hit.
[Graphical view]
PIRSFiPIRSF037469. Clathrin_H-chain-rel. 1 hit.
SUPFAMiSSF48371. SSF48371. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8NHS4-1) [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
MSVHQIRKHA VLPPIICRSD KEFLESVQRY IITETERLGC SEEGPADEYY
60 70 80 90 100
IIYRNVFDKV IEHITAYKSI LTSIKKEYDA FIETIKKDRR TTFCLHGKLK
110 120 130 140 150
GLAAEPTALV YYRKRTIQLE AKMRIIESNS SKIQSQIDHI KQCRAEYDTK
160 170 180 190 200
EVKYCTFSKD PSKPIPGMTL QESMNLDALT KYMKHLEDKY AEIKQAMLIK
210 220 230 240 250
YVPAQRKADL DEEMIVLLKR RDVAENLNKK LQFCHQRLQI ISQALSSWVK
260 270 280 290 300
SDMSSPFQDF VEQIQKTKYL QGDQGIVEEL MEDDPRRAKE AEIMLHYIER
310 320 330 340 350
FNELISLGEY EKAACYAANS PRRILRNIGT MNTFKAVGKI RGKPLPLLLF
360 370 380 390 400
FEALFITSHA FPCPVDAALT LEGIKCGLSE KRLDLVTNWV TQERLTFSEE
410 420 430 440 450
AGDVICDYGE QDTYNKAKCL ALAQIVYSEC GLHKKAILCL CKQGQTHRVM
460 470 480 490 500
EYIQQLKDFT TDDLLQLLMS CPQVELIQCL TKELNEKQPS LSFGLAILHL
510 520 530 540 550
FSADMKKVGI KLLQEINKGG IDAVESLMIN DSFCSIEKWQ EVANICSQNG
560 570 580
FDKLSNDITS ILRSQAAVTE ISEEDDAVNL MEHVFW
Length:586
Mass (Da):67,250
Last modified:January 11, 2011 - v3
Checksum:i52458D0C3B64468E
GO
Isoform 2 (identifier: Q8NHS4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-122: Missing.

Note: No experimental confirmation available.
Show »
Length:464
Mass (Da):52,984
Checksum:i61E2184AA48E341C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039944178A → V.2 PublicationsCorresponds to variant rs9677948dbSNPEnsembl.1
Natural variantiVAR_039945426V → I.2 PublicationsCorresponds to variant rs6716066dbSNPEnsembl.1
Natural variantiVAR_039946503A → V.1 PublicationCorresponds to variant rs14026dbSNPEnsembl.1
Natural variantiVAR_039947552D → Y.Corresponds to variant rs3186099dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0324611 – 122Missing in isoform 2. 1 PublicationAdd BLAST122

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK315683 mRNA. Translation: BAG38048.1.
AC012358 Genomic DNA. No translation available.
AC093165 Genomic DNA. Translation: AAY24030.1.
BC029502 mRNA. Translation: AAH29502.1.
BC036908 mRNA. Translation: AAH36908.1.
CCDSiCCDS33201.1. [Q8NHS4-1]
CCDS46287.1. [Q8NHS4-2]
RefSeqiNP_001129070.1. NM_001135598.1. [Q8NHS4-2]
NP_689598.2. NM_152385.2. [Q8NHS4-1]
XP_005264193.1. XM_005264136.2. [Q8NHS4-1]
XP_011530821.1. XM_011532519.2. [Q8NHS4-1]
XP_011530822.1. XM_011532520.2. [Q8NHS4-1]
XP_011530823.1. XM_011532521.2. [Q8NHS4-1]
XP_011530824.1. XM_011532522.2. [Q8NHS4-1]
XP_011530825.1. XM_011532523.2. [Q8NHS4-1]
XP_011530826.1. XM_011532524.1. [Q8NHS4-1]
XP_011530827.1. XM_011532525.2. [Q8NHS4-1]
XP_011530829.1. XM_011532527.2. [Q8NHS4-2]
XP_011530830.1. XM_011532528.1. [Q8NHS4-2]
XP_011530831.1. XM_011532529.2. [Q8NHS4-2]
XP_011530832.1. XM_011532530.1. [Q8NHS4-2]
XP_016858824.1. XM_017003335.1. [Q8NHS4-2]
XP_016858825.1. XM_017003336.1. [Q8NHS4-2]
XP_016858826.1. XM_017003337.1. [Q8NHS4-2]
XP_016858827.1. XM_017003338.1. [Q8NHS4-2]
UniGeneiHs.347014.

Genome annotation databases

EnsembliENST00000401408; ENSP00000384869; ENSG00000162994. [Q8NHS4-1]
ENST00000406076; ENSP00000385512; ENSG00000162994. [Q8NHS4-2]
ENST00000407122; ENSP00000385778; ENSG00000162994. [Q8NHS4-1]
GeneIDi130162.
KEGGihsa:130162.
UCSCiuc002ryi.3. human. [Q8NHS4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK315683 mRNA. Translation: BAG38048.1.
AC012358 Genomic DNA. No translation available.
AC093165 Genomic DNA. Translation: AAY24030.1.
BC029502 mRNA. Translation: AAH29502.1.
BC036908 mRNA. Translation: AAH36908.1.
CCDSiCCDS33201.1. [Q8NHS4-1]
CCDS46287.1. [Q8NHS4-2]
RefSeqiNP_001129070.1. NM_001135598.1. [Q8NHS4-2]
NP_689598.2. NM_152385.2. [Q8NHS4-1]
XP_005264193.1. XM_005264136.2. [Q8NHS4-1]
XP_011530821.1. XM_011532519.2. [Q8NHS4-1]
XP_011530822.1. XM_011532520.2. [Q8NHS4-1]
XP_011530823.1. XM_011532521.2. [Q8NHS4-1]
XP_011530824.1. XM_011532522.2. [Q8NHS4-1]
XP_011530825.1. XM_011532523.2. [Q8NHS4-1]
XP_011530826.1. XM_011532524.1. [Q8NHS4-1]
XP_011530827.1. XM_011532525.2. [Q8NHS4-1]
XP_011530829.1. XM_011532527.2. [Q8NHS4-2]
XP_011530830.1. XM_011532528.1. [Q8NHS4-2]
XP_011530831.1. XM_011532529.2. [Q8NHS4-2]
XP_011530832.1. XM_011532530.1. [Q8NHS4-2]
XP_016858824.1. XM_017003335.1. [Q8NHS4-2]
XP_016858825.1. XM_017003336.1. [Q8NHS4-2]
XP_016858826.1. XM_017003337.1. [Q8NHS4-2]
XP_016858827.1. XM_017003338.1. [Q8NHS4-2]
UniGeneiHs.347014.

3D structure databases

ProteinModelPortaliQ8NHS4.
SMRiQ8NHS4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126226. 4 interactors.
IntActiQ8NHS4. 3 interactors.
STRINGi9606.ENSP00000384869.

PTM databases

iPTMnetiQ8NHS4.
PhosphoSitePlusiQ8NHS4.

Polymorphism and mutation databases

BioMutaiCLHC1.
DMDMi317373465.

Proteomic databases

PaxDbiQ8NHS4.
PRIDEiQ8NHS4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000401408; ENSP00000384869; ENSG00000162994. [Q8NHS4-1]
ENST00000406076; ENSP00000385512; ENSG00000162994. [Q8NHS4-2]
ENST00000407122; ENSP00000385778; ENSG00000162994. [Q8NHS4-1]
GeneIDi130162.
KEGGihsa:130162.
UCSCiuc002ryi.3. human. [Q8NHS4-1]

Organism-specific databases

CTDi130162.
DisGeNETi130162.
GeneCardsiCLHC1.
HGNCiHGNC:26453. CLHC1.
HPAiHPA045418.
HPA053557.
neXtProtiNX_Q8NHS4.
OpenTargetsiENSG00000162994.
PharmGKBiPA162379359.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0985. Eukaryota.
ENOG410XPH1. LUCA.
GeneTreeiENSGT00390000016690.
HOGENOMiHOG000060111.
HOVERGENiHBG107579.
InParanoidiQ8NHS4.
OMAiANICLQN.
OrthoDBiEOG091G0DQU.
PhylomeDBiQ8NHS4.
TreeFamiTF328858.

Miscellaneous databases

GenomeRNAii130162.
PROiQ8NHS4.

Gene expression databases

BgeeiENSG00000162994.
CleanExiHS_C2orf63.
ExpressionAtlasiQ8NHS4. baseline and differential.
GenevisibleiQ8NHS4. HS.

Family and domain databases

Gene3Di1.25.40.30. 2 hits.
InterProiIPR016024. ARM-type_fold.
IPR012331. Clathrin_H-chain_linker.
IPR017212. Clathrin_heavy-chain-rel.
IPR032755. TSNAXIP1_N.
[Graphical view]
PfamiPF15739. TSNAXIP1_N. 1 hit.
[Graphical view]
PIRSFiPIRSF037469. Clathrin_H-chain-rel. 1 hit.
SUPFAMiSSF48371. SSF48371. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCLHC1_HUMAN
AccessioniPrimary (citable) accession number: Q8NHS4
Secondary accession number(s): B2RDV1, Q53R93, Q8N403
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: January 11, 2011
Last modified: November 2, 2016
This is version 98 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 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

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.