CHML
Rab proteins geranylgeranyltransferase component A 2
Also known as: RAE2_HUMAN, REP-2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P26374
- Gene
- CHML
- Ensembl
- ENSG00000203668
- Chromosome
- 1
- Canonical length
- 656 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
656 residues, UniProt reviewed canonical sequence.
>P26374|CHML
1 MADNLPTEFD VVIIGTGLPE SILAAACSRS GQRVLHIDSR SYYGGNWASF SFSGLLSWLK
61 EYQQNNDIGE ESTVVWQDLI HETEEAITLR KKDETIQHTE AFCYASQDME DNVEEIGALQ
121 KNPSLGVSNT FTEVLDSALP EESQLSYFNS DEMPAKHTQK SDTEISLEVT DVEESVEKEK
181 YCGDKTCMHT VSDKDGDKDE SKSTVEDKAD EPIRNRITYS QIVKEGRRFN IDLVSKLLYS
241 QGLLIDLLIK SDVSRYVEFK NVTRILAFRE GKVEQVPCSR ADVFNSKELT MVEKRMLMKF
301 LTFCLEYEQH PDEYQAFRQC SFSEYLKTKK LTPNLQHFVL HSIAMTSESS CTTIDGLNAT
361 KNFLQCLGRF GNTPFLFPLY GQGEIPQGFC RMCAVFGGIY CLRHKVQCFV VDKESGRCKA
421 IIDHFGQRIN AKYFIVEDSY LSEETCSNVQ YKQISRAVLI TDQSILKTDL DQQTSILIVP
481 PAEPGACAVR VTELCSSTMT CMKDTYLVHL TCSSSKTARE DLESVVKKLF TPYTETEINE
541 EELTKPRLLW ALYFNMRDSS GISRSSYNGL PSNVYVCSGP DCGLGNEHAV KQAETLFQEI
601 FPTEEFCPPP PNPEDIIFDG DDKQPEAPGT NNVVMAKLES SEESKNLESP EKHLQNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHML can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 11 nTPM
Expression across tissuesHPA
Tissue
- placenta: 11 nTPM
- bone marrow: 7 nTPM
- ovary: 6 nTPM
- thymus: 5.9 nTPM
- cerebral cortex: 5.8 nTPM
- testis: 5.7 nTPM
Single-cell type
- late spermatids: 15 nCPM
- megakaryocytes: 12 nCPM
- erythrocyte progenitors: 10 nCPM
- megakaryocyte progenitors: 9 nCPM
- extravillous trophoblasts: 8.4 nCPM
- megakaryocyte-erythroid progenitors: 8.2 nCPM
Immune cell
- basophil: 1.1 nTPM
- plasmacytoid DC: 0.7 nTPM
- intermediate monocyte: 0.3 nTPM
- memory B-cell: 0.3 nTPM
- naive B-cell: 0.3 nTPM
- naive CD4 T-cell: 0.3 nTPM
Brain region
- cerebral cortex: 17 nTPM
- white matter: 13 nTPM
- thalamus: 12 nTPM
- basal ganglia: 12 nTPM
- midbrain: 11 nTPM
- amygdala: 10 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.91
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.04
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- intracellular protein transport
- protein geranylgeranylation
- small GTPase-mediated signal transduction
- vesicle-mediated transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CHML in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CHML as an antibody target. Whether an autoantibody or antibody against CHML could matter depends on whether native CHML is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHML is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CHML as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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