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UniProtKB - Q5T5A4 (CF276_HUMAN)
Protein
Protein CFAP276
Gene
CFAP276
Organism
Homo sapiens (Human)
Status
Functioni
May play an important role for the maintenance of myelin-axon integrity (By similarity).
May affect intracellular Ca2+ homeostasis (PubMed:31199454).
By similarity1 PublicationGO - Molecular functioni
- heme binding Source: GO_Central
- heme transmembrane transporter activity Source: GO_Central
GO - Biological processi
- heme export Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | Q5T5A4 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein CFAP276CuratedAlternative name(s): Cilia- and flagella-associated protein 276Imported |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:32331, CFAP276 |
MIMi | 618682, gene |
neXtProti | NX_Q5T5A4 |
VEuPathDBi | HostDB:ENSG00000179902 |
Subcellular locationi
Cytoskeleton
- cytoskeleton 1 Publication
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Cytoskeleton
- cytoskeleton Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
CFAP276 mutations may be the cause of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. Intermediate forms of Charcot-Marie-Tooth disease exist and are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.1 Publication
Keywords - Diseasei
Charcot-Marie-Tooth disease, Disease variant, Neurodegeneration, NeuropathyOrganism-specific databases
DisGeNETi | 127003 |
OpenTargetsi | ENSG00000179902 |
PharmGKBi | PA145149814 |
Miscellaneous databases
Pharosi | Q5T5A4, Tdark |
Genetic variation databases
BioMutai | C1orf194 |
DMDMi | 74745049 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000303065 | 1 – 169 | Protein CFAP276Add BLAST | 169 |
Proteomic databases
MassIVEi | Q5T5A4 |
PeptideAtlasi | Q5T5A4 |
PRIDEi | Q5T5A4 |
PTM databases
iPTMneti | Q5T5A4 |
PhosphoSitePlusi | Q5T5A4 |
Expressioni
Tissue specificityi
Expressed in cerebrum, cerebellum, gastrocnemius muscle, spinal cord and lung tissues.1 Publication
Gene expression databases
Bgeei | ENSG00000179902, Expressed in right uterine tube and 127 other tissues |
ExpressionAtlasi | Q5T5A4, baseline and differential |
Genevisiblei | Q5T5A4, HS |
Organism-specific databases
HPAi | ENSG00000179902, Group enriched (fallopian tube, testis) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 126029, 1 interactor |
STRINGi | 9606.ENSP00000358965 |
Miscellaneous databases
RNActi | Q5T5A4, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q5T5A4 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 26 – 45 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 150 – 169 | DisorderedSequence analysisAdd BLAST | 20 |
Phylogenomic databases
eggNOGi | ENOG502S2J1, Eukaryota |
GeneTreei | ENSGT01030000234625 |
HOGENOMi | CLU_133894_0_0_1 |
InParanoidi | Q5T5A4 |
OMAi | ANIRQWI |
OrthoDBi | 1429280at2759 |
PhylomeDBi | Q5T5A4 |
TreeFami | TF325898 |
Family and domain databases
InterProi | View protein in InterPro IPR022179, DUF3695 |
Pfami | View protein in Pfam PF12494, DUF3695, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q5T5A4-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPPTRDPFQQ PTLDNDDSYL GELRASKKLP YKNPTHLAQQ QEPWSRLNST
60 70 80 90 100
PTITSMRRDA YYFDPEIPKD DLDFRLAALY NHHTGTFKNK SEILLNQKTT
110 120 130 140 150
QDTYRTKIQF PGEFLTPPTP PITFLANIRH WINPKKESIH SIQGSIVSPH
160
TAATNGGYSR KKDGGFFST
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PLX1 | E9PLX1_HUMAN | Protein CFAP276 | CFAP276 | 36 | Annotation score: | ||
B1ALJ5 | B1ALJ5_HUMAN | Protein CFAP276 | CFAP276 | 130 | Annotation score: | ||
E9PRR4 | E9PRR4_HUMAN | Protein CFAP276 | CFAP276 | 48 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082033 | 28 | K → I Found in patients with an intermediate form of Charcot-Marie-Tooth disease; does not affect subcellular location; reduced protein expression; increased intracellular Ca(2+). 1 PublicationCorresponds to variant dbSNP:rs1553246861Ensembl. | 1 | |
Natural variantiVAR_082034 | 122 | I → N Probable disease-associated variant found in patients with a form of Charcot-Marie-Tooth disease leading to demyelinating form; does not affect subcellular location; increased protein expression; increased aggregation in vesicles; increased intracellular Ca(2+); decreased mitochondrial Ca(2+). 1 PublicationCorresponds to variant dbSNP:rs1553246716Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_027993 | 1 – 27 | MPPTR…LRASK → MERSPSRRRRLEEAP in isoform 2. 1 PublicationAdd BLAST | 27 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | BM726900 mRNA No translation available. AL356488 Genomic DNA No translation available. AL138933 Genomic DNA No translation available. |
CCDSi | CCDS41364.1 [Q5T5A4-2] |
RefSeqi | NP_001116433.1, NM_001122961.1 [Q5T5A4-2] |
Genome annotation databases
Ensembli | ENST00000369948.8; ENSP00000358964.3; ENSG00000179902.13 ENST00000369949.8; ENSP00000358965.4; ENSG00000179902.13 [Q5T5A4-2] |
GeneIDi | 127003 |
KEGGi | hsa:127003 |
MANE-Selecti | ENST00000369948.8; ENSP00000358964.3; NM_001245025.3; NP_001231954.1 |
UCSCi | uc009wev.4, human [Q5T5A4-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | BM726900 mRNA No translation available. AL356488 Genomic DNA No translation available. AL138933 Genomic DNA No translation available. |
CCDSi | CCDS41364.1 [Q5T5A4-2] |
RefSeqi | NP_001116433.1, NM_001122961.1 [Q5T5A4-2] |
3D structure databases
AlphaFoldDBi | Q5T5A4 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 126029, 1 interactor |
STRINGi | 9606.ENSP00000358965 |
PTM databases
iPTMneti | Q5T5A4 |
PhosphoSitePlusi | Q5T5A4 |
Genetic variation databases
BioMutai | C1orf194 |
DMDMi | 74745049 |
Proteomic databases
MassIVEi | Q5T5A4 |
PeptideAtlasi | Q5T5A4 |
PRIDEi | Q5T5A4 |
Protocols and materials databases
Antibodypediai | 33746, 46 antibodies from 9 providers |
DNASUi | 127003 |
Genome annotation databases
Ensembli | ENST00000369948.8; ENSP00000358964.3; ENSG00000179902.13 ENST00000369949.8; ENSP00000358965.4; ENSG00000179902.13 [Q5T5A4-2] |
GeneIDi | 127003 |
KEGGi | hsa:127003 |
MANE-Selecti | ENST00000369948.8; ENSP00000358964.3; NM_001245025.3; NP_001231954.1 |
UCSCi | uc009wev.4, human [Q5T5A4-1] |
Organism-specific databases
CTDi | 127003 |
DisGeNETi | 127003 |
GeneCardsi | C1orf194 |
HGNCi | HGNC:32331, CFAP276 |
HPAi | ENSG00000179902, Group enriched (fallopian tube, testis) |
MIMi | 618682, gene |
neXtProti | NX_Q5T5A4 |
OpenTargetsi | ENSG00000179902 |
PharmGKBi | PA145149814 |
VEuPathDBi | HostDB:ENSG00000179902 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S2J1, Eukaryota |
GeneTreei | ENSGT01030000234625 |
HOGENOMi | CLU_133894_0_0_1 |
InParanoidi | Q5T5A4 |
OMAi | ANIRQWI |
OrthoDBi | 1429280at2759 |
PhylomeDBi | Q5T5A4 |
TreeFami | TF325898 |
Enzyme and pathway databases
PathwayCommonsi | Q5T5A4 |
Miscellaneous databases
BioGRID-ORCSi | 127003, 10 hits in 1033 CRISPR screens |
GenomeRNAii | 127003 |
Pharosi | Q5T5A4, Tdark |
PROi | PR:Q5T5A4 |
RNActi | Q5T5A4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000179902, Expressed in right uterine tube and 127 other tissues |
ExpressionAtlasi | Q5T5A4, baseline and differential |
Genevisiblei | Q5T5A4, HS |
Family and domain databases
InterProi | View protein in InterPro IPR022179, DUF3695 |
Pfami | View protein in Pfam PF12494, DUF3695, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CF276_HUMAN | |
Accessioni | Q5T5A4Primary (citable) accession number: Q5T5A4 Secondary accession number(s): Q5T5A3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 11, 2007 |
Last sequence update: | December 21, 2004 | |
Last modified: | May 25, 2022 | |
This is version 109 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot