KAZN
Kazrin
Also known as: C1orf196, FLJ43806, KAZRIN, KAZRN_HUMAN, KIAA1026
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q674X7
- Gene
- KAZN
- Ensembl
- ENSG00000189337
- Chromosome
- 1
- Canonical length
- 775 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear speckles,Cytosol
OverviewNCBI Gene
This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011]
Canonical amino-acid sequenceUniProt
775 residues, UniProt reviewed canonical sequence.
>Q674X7|KAZN
1 MMEDNKQLAL RIDGAVQSAS QEVTNLRAEL TATNRRLAEL SGGGGPGPGP GAAASASAAG
61 DSAATNMENP QLGAQVLLRE EVSRLQEEVH LLRQMKEMLA KDLEESQGGK SSEVLSATEL
121 RVQLAQKEQE LARAKEALQA MKADRKRLKG EKTDLVSQMQ QLYATLESRE EQLRDFIRNY
181 EQHRKESEDA VKALAKEKDL LEREKWELRR QAKEATDHAT ALRSQLDLKD NRMKELEAEL
241 AMAKQSLATL TKDVPKRHSL AMPGETVLNG NQEWVVQADL PLTAAIRQSQ QTLYHSHPPH
301 PADRQAVRVS PCHSRQPSVI SDASAAEGDR SSTPSDINSP RHRTHSLCNG DSPGPVQKNL
361 HNPIVQSLED LEDQKRKKKK EKMGFGSISR VFARGKQRKS LDPGLFDDSD SQCSPTRQSL
421 SLSEGEEQMD RLQQVELVRT TPMSHWKAGT VQAWLEVVMA MPMYVKACTE NVKSGKVLLS
481 LSDEDLQLGL GVCSSLHRRK LRLAIEDYRD AEAGRSLSKA AELDHHWVAK AWLNDIGLSQ
541 YSQAFQNHLV DGRMLNSLMK RDLEKHLNVS KKFHQVSILL GIELLYQVNF SREALQERRA
601 RCETQNIDPV VWTNQRVLKW VRDIDLKEYA DNLTNSGVHG AVLVLEPTFN AEAMATALGI
661 PSGKHILRRH LAEEMSAVFH PANSTGIREA ERFGTPPGRA SSVTRAGKEE NSSGLKYKAG
721 RLPLGKIGRG FSSKDPDFHD DYGSLQNEDC GDDDPQSRLE QCRLEGYNSL EVTNVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KAZN 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.5
- Highest tissue expression
- 88 nTPM
Expression across tissuesHPA
Tissue
- spleen: 88 nTPM
- cerebellum: 72 nTPM
- spinal cord: 53 nTPM
- esophagus: 34 nTPM
- midbrain: 32 nTPM
- parathyroid gland: 28 nTPM
Single-cell type
- choroid plexus epithelial cells: 2,834 nCPM
- oligodendrocyte progenitor cells: 2,346 nCPM
- retinal ganglion cells: 2,221 nCPM
- renal connecting tubule cells: 2,200 nCPM
- renal collecting duct principal cells: 1,886 nCPM
- brain inhibitory neurons: 1,871 nCPM
Immune cell
- neutrophil: 3.5 nTPM
- memory B-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- white matter: 107 nTPM
- cerebellum: 102 nTPM
- medulla oblongata: 91 nTPM
- thalamus: 84 nTPM
- midbrain: 83 nTPM
- cerebral cortex: 82 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)
- 0.38
- gnomAD pLI
- 0.6
- gnomAD missense Z
- 2.31
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Sterile alpha motif domain
- Sterile alpha motif/pointed domain superfamily
- SAM domain (Sterile alpha motif)
- SAM domain (Sterile alpha motif)
- Kazrin, SAM domain repeat 1
- Kazrin
- Kazrin, SAM domain repeat 2
- Kazrin, SAM domain repeat 3
- Kazrin, N-terminal domain
- Kazrin domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KAZN 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 KAZN as an antibody target. Whether an autoantibody or antibody against KAZN could matter depends on whether native KAZN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KAZN is annotated at the cell surface, where native KAZN is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label KAZN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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