CLTCL1 (clathrin heavy chain like 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8218
Gene name Gene Name - the full gene name approved by the HGNC.
Clathrin heavy chain like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLTCL1
Synonyms (NCBI Gene) Gene synonyms aliases
CHC22, CLH22, CLTCL, CLTD
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs199652160 C>T Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
miRTarBase ID miRNA Experiments Reference
MIRT2202216 hsa-miR-149 CLIP-seq
MIRT2202217 hsa-miR-214 CLIP-seq
MIRT2202218 hsa-miR-338-3p CLIP-seq
MIRT2202219 hsa-miR-3619-5p CLIP-seq
MIRT2202220 hsa-miR-4459 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(29)
GO ID Ontology Definition Evidence Reference
GO:0000278 Process Mitotic cell cycle IDA 19509056
GO:0000278 Process Mitotic cell cycle IDA 20065094
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 19478182, 19509056
GO:0005769 Component Early endosome IDA 20065094
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601273 2093 ENSG00000070371
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P53675
Protein name Clathrin heavy chain 2 (Clathrin heavy chain on chromosome 22) (CLH-22)
Protein function Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01394 Clathrin_propel 19 → 56 Clathrin propeller repeat Repeat
PF01394 Clathrin_propel 148 → 187 Clathrin propeller repeat Repeat
PF01394 Clathrin_propel 198 → 234 Clathrin propeller repeat Repeat
PF01394 Clathrin_propel 296 → 330 Clathrin propeller repeat Repeat
PF09268 Clathrin-link 331 → 354 Clathrin, heavy-chain linker Family
PF13838 Clathrin_H_link 356 → 421 Domain
PF00637 Clathrin 537 → 679 Region in Clathrin and VPS Family
PF00637 Clathrin 686 → 827 Region in Clathrin and VPS Family
PF00637 Clathrin 834 → 971 Region in Clathrin and VPS Family
PF00637 Clathrin 979 → 1123 Region in Clathrin and VPS Family
PF00637 Clathrin 1128 → 1267 Region in Clathrin and VPS Family
PF00637 Clathrin 1274 → 1419 Region in Clathrin and VPS Family
PF00637 Clathrin 1423 → 1565 Region in Clathrin and VPS Family
Tissue specificity TISSUE SPECIFICITY: Maximal levels in skeletal muscle. High levels in heart and testis. Low expression detected in all other tissues.
Sequence 
MAQILPVRFQEHFQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVTIIDMSDPMA
PIRRPISAESAIMNPASKVIALKAGKTLQIFNIEMKSKMKAHTMAEEVIFWKWVSVNTVA
LVTETAVYHWSMEGDSQPMKMFDRHTSLVGCQVIHYRTDEYQKWLLLVGISAQQNRVVGA
MQLYSVDRKVSQPIEGHAAAFAEFKMEGNAKPATLFCFAVRNPTGGKLHIIEVGQPAAGN
QPFVKKAVDVFFPPEAQNDFPVAMQIGAKHGVIYLITKYGYLHLYDLESGVCICMNRISA
DTIFVTAPHKPTSGIIGVNKKGQVLSVCVEEDNIVNYATNVLQNPDLGLRLAVRSNLAGA
EKLFVRKFNTLFAQGSYAEAAKVAASAPKGILRTRETVQKFQSIPAQSGQASPLLQYFGI
LLDQGQLNKLESLELCHLVLQQGRKQLLEKWLKEDKLECSEELGDLVKTTDPMLALSVYL
RANVPSKVIQCFAETGQFQKIVLYAKKVGYTPDWIFLLRGVMKISPEQGLQFSRMLVQDE
EPLANISQIVDIFMENSLIQQCTSFLLDALKNNRPAEGLLQTWLLEMNLVHAPQVADAIL
GNKMFTHYDRAHIAQLCEKAGLLQQALEHYTDLYDIKRAVVHTHLLNPEWLVNFFGSLSV
EDSVECLHAMLSANIRQNLQLCVQVASKYHEQLGTQALVELFESFKSYKGLFYFLGSIVN
FSQDPDVHLKYIQAACKTGQIKEVERICRESSCYNPERVKNFLKEAKLTDQLPLIIVCDR
FGFVHDLVLYLYRNNLQRYIEIYVQKVNPSRTPAVIGGLLDVDCSEEVIKHLIMAVRGQF
STDELVAEVEKRNRLKLLLPWLESQIQEGCEEPATHNALAKIYIDSNNSPECFLRENAYY
DSSVVGRYCEKRDPHLACVAYERGQCDLELIKVCNENSLFKSEARYLVCRKDPELWAHVL
EETNPSRRQLIDQVVQTALSETRDPEEISVTVKAFMTADLPNELIELLEKIVLDNSVFSE
HRNLQNLLILTAIKADRTRVMEYISRLDNYDALDIASIAVSSALYEEAFTVFHKFDMNAS
AIQVLIEHIGNLDRAYEFAERCNEPAVWSQLAQAQLQKDLVKEAINSYIRGDDPSSYLEV
VQSASRSNNWEDLVKFLQMARKKGRESYIETELIFALAKTSRVSELEDFINGPNNAHIQQ
VGDRCYEEGMYEAAKLLYSNVSNFARLASTLVHLGEYQAAVDNSRKASSTRTWKEVCFAC
MDGQEFRFAQLCGLHIVIHADELEELMCYYQDRGYFEELILLLEAALGLERAHMGMFTEL
AILYSKFKPQKMLEHLELFWSRVNIPKVLRAAEQAHLWAELVFLYDKYEEYDNAVLTMMS
HPTEAWKEGQFKDIITKVANVELCYRALQFYLDYKPLLINDLLLVLSPRLDHTWTVSFFS
KAGQLPLVKPYLRSVQSHNNKSVNEALNHLLTEEEDYQGLRASIDAYDNFDNISLAQQLE
KHQLMEFRCIAAYLYKGNNWWAQSVELCKKDHLYKDAMQHAAESRDAELAQKLLQWFLEE
GKRECFAACLFTCYDLLRPDMVLELAWRHNLVDLAMPYFIQVMREYLSKVDKLDALESLR
KQEEHVTEPAPLVFDFDGHE
Sequence length 1640
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Lysosome
Endocytosis
Synaptic vesicle cycle
Endocrine and other factor-regulated calcium reabsorption
Huntington disease
Bacterial invasion of epithelial cells 		  Gap junction degradation
Formation of annular gap junctions
EPH-ephrin mediated repulsion of cells
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Mental retardation congenital insensitivity to pain with severe intellectual disability GenCC
Multiple Congenital Anomalies multiple congenital anomalies/dysmorphic syndrome GenCC
Coronary artery disease Coronary artery disease GWAS
Alzheimer disease Alzheimer disease GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining
Disease Name Relationship Type References
Autistic Disorder Associate 22511880
Chromosome 22q11.2 Microduplication Syndrome Associate 36722223
Cognition Disorders Associate 26068709
Congenital Microtia Associate 37107637
Conotruncal cardiac defects Associate 22185286
DiGeorge Syndrome Inhibit 22185286
DiGeorge Syndrome Associate 29925309, 9326327
Genetic Diseases Inborn Associate 26068709
Insulin Resistance Associate 29097553
Meningioma Associate 32461543