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Entry version 116 (10 Apr 2019)
Sequence version 2 (26 Feb 2008)
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Protein

Kazrin

Gene

KAZN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherens junctions and desmosomes. The function in the nucleus is not known.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processKeratinization

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-6809371 Formation of the cornified envelope

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Kazrin
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KAZN
Synonyms:KAZ, KIAA1026
ORF Names:HRIHFB2003
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000189337.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29173 KAZN

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
618301 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q674X7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoskeleton, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
23254

Open Targets

More...
OpenTargetsi
ENSG00000189337

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KAZN

Domain mapping of disease mutations (DMDM)

More...
DMDMi
172044653

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003224531 – 775KazrinAdd BLAST775

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei352PhosphoserineCombined sources1
Modified residuei367PhosphoserineBy similarity1
Modified residuei387PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q674X7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q674X7

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q674X7

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q674X7

PeptideAtlas

More...
PeptideAtlasi
Q674X7

PRoteomics IDEntifications database

More...
PRIDEi
Q674X7

ProteomicsDB human proteome resource

More...
ProteomicsDBi
65976
65977 [Q674X7-2]
65978 [Q674X7-3]
65979 [Q674X7-4]
65980 [Q674X7-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q674X7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q674X7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Isoform 2, isoform 3 and isoform 4 are expressed in several cell lines including keratinocytes and bladder and epidermoid carcinoma (at protein level). Isoform 2, isoform 3 and isoform 4 are expressed in hair follicle and interfollicular epidermis (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000189337 Expressed in 222 organ(s), highest expression level in cerebellum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q674X7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q674X7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA032095
HPA032096

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Isoform 2, isoform 3 and isoform 4 interact with PPL N-terminus.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116858, 6 interactors

Protein interaction database and analysis system

More...
IntActi
Q674X7, 13 interactors

Molecular INTeraction database

More...
MINTi
Q674X7

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000365198

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q674X7

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q674X7

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini446 – 511SAM 1PROSITE-ProRule annotationAdd BLAST66
Domaini524 – 588SAM 2PROSITE-ProRule annotationAdd BLAST65
Domaini612 – 679SAM 3PROSITE-ProRule annotationAdd BLAST68

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni174 – 333Interaction with PPL1 PublicationAdd BLAST160

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili74 – 256Sequence analysisAdd BLAST183

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi375 – 382Poly-Lys8

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the kazrin family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0249 Eukaryota
ENOG410XP8Z LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154570

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG058718

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q674X7

Database of Orthologous Groups

More...
OrthoDBi
558442at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q674X7

TreeFam database of animal gene trees

More...
TreeFami
TF331216

Family and domain databases

Conserved Domains Database

More...
CDDi
cd09564 SAM_kazrin_repeat1, 1 hit
cd09567 SAM_kazrin_repeat2, 1 hit
cd09570 SAM_kazrin_repeat3, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR037614 Kazrin
IPR037613 Kazrin_SAM_rpt_1
IPR037615 Kazrin_SAM_rpt_2
IPR037616 Kazrin_SAM_rpt_3
IPR001660 SAM
IPR013761 SAM/pointed_sf

The PANTHER Classification System

More...
PANTHERi
PTHR12776 PTHR12776, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00536 SAM_1, 2 hits
PF07647 SAM_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00454 SAM, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47769 SSF47769, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50105 SAM_DOMAIN, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q674X7-1) [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
MMEDNKQLAL RIDGAVQSAS QEVTNLRAEL TATNRRLAEL SGGGGPGPGP
60 70 80 90 100
GAAASASAAG DSAATNMENP QLGAQVLLRE EVSRLQEEVH LLRQMKEMLA
110 120 130 140 150
KDLEESQGGK SSEVLSATEL RVQLAQKEQE LARAKEALQA MKADRKRLKG
160 170 180 190 200
EKTDLVSQMQ QLYATLESRE EQLRDFIRNY EQHRKESEDA VKALAKEKDL
210 220 230 240 250
LEREKWELRR QAKEATDHAT ALRSQLDLKD NRMKELEAEL AMAKQSLATL
260 270 280 290 300
TKDVPKRHSL AMPGETVLNG NQEWVVQADL PLTAAIRQSQ QTLYHSHPPH
310 320 330 340 350
PADRQAVRVS PCHSRQPSVI SDASAAEGDR SSTPSDINSP RHRTHSLCNG
360 370 380 390 400
DSPGPVQKNL HNPIVQSLED LEDQKRKKKK EKMGFGSISR VFARGKQRKS
410 420 430 440 450
LDPGLFDDSD SQCSPTRQSL SLSEGEEQMD RLQQVELVRT TPMSHWKAGT
460 470 480 490 500
VQAWLEVVMA MPMYVKACTE NVKSGKVLLS LSDEDLQLGL GVCSSLHRRK
510 520 530 540 550
LRLAIEDYRD AEAGRSLSKA AELDHHWVAK AWLNDIGLSQ YSQAFQNHLV
560 570 580 590 600
DGRMLNSLMK RDLEKHLNVS KKFHQVSILL GIELLYQVNF SREALQERRA
610 620 630 640 650
RCETQNIDPV VWTNQRVLKW VRDIDLKEYA DNLTNSGVHG AVLVLEPTFN
660 670 680 690 700
AEAMATALGI PSGKHILRRH LAEEMSAVFH PANSTGIREA ERFGTPPGRA
710 720 730 740 750
SSVTRAGKEE NSSGLKYKAG RLPLGKIGRG FSSKDPDFHD DYGSLQNEDC
760 770
GDDDPQSRLE QCRLEGYNSL EVTNV
Length:775
Mass (Da):86,351
Last modified:February 26, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7A13B7F262C79294
GO
Isoform 2 (identifier: Q674X7-2) [UniParc]FASTAAdd to basket
Also known as: A

The sequence of this isoform differs from the canonical sequence as follows:
     408-422: DSDSQCSPTRQSLSL → GTAPDYYIEEDADW
     423-775: Missing.

Show »
Length:421
Mass (Da):46,766
Checksum:i977131CDD2E6526F
GO
Isoform 3 (identifier: Q674X7-3) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     1-75: MMEDNKQLAL...NMENPQLGAQ → MRAADSGSWE...VRADGDCSQP
     408-422: DSDSQCSPTRQSLSL → GTAPDYYIEEDADW
     423-775: Missing.

Show »
Length:415
Mass (Da):46,212
Checksum:i53ECA06BE458B5C4
GO
Isoform 4 (identifier: Q674X7-4) [UniParc]FASTAAdd to basket
Also known as: C, D

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: Missing.
     408-422: DSDSQCSPTRQSLSL → GTAPDYYIEEDADW
     423-775: Missing.

Show »
Length:327
Mass (Da):37,034
Checksum:iAFDE5259EB272437
GO
Isoform 5 (identifier: Q674X7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     350-421: GDSPGPVQKN...QCSPTRQSLS → VRPAAAGPGP...RPVCSLCPGG
     422-775: Missing.

Show »
Length:421
Mass (Da):46,250
Checksum:i5400415BC04E3FBE
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GWK2A0A1B0GWK2_HUMAN
Kazrin
KAZN
863Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B0QYQ6B0QYQ6_HUMAN
Kazrin
KAZN
166Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTU0A0A1B0GTU0_HUMAN
Kazrin
KAZN
105Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH36877 differs from that shown. The cDNA sequence has been translated in the reverse direction.Curated
The sequence AAI01638 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAI13622 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA82978 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA88115 differs from that shown. Reason: Frameshift at position 348.Curated
The sequence BAC86294 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti348 – 349CN → S in BAA88115 (PubMed:9853615).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060168706A → T1 PublicationCorresponds to variant dbSNP:rs10803354Ensembl.1
Natural variantiVAR_060169763R → C. Corresponds to variant dbSNP:rs12048768Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0318981 – 94Missing in isoform 4. 2 PublicationsAdd BLAST94
Alternative sequenceiVSP_0318991 – 75MMEDN…QLGAQ → MRAADSGSWERVRQLAAQGE PAPSCGAGAGPARPPGPAAC EQCVDAAGPGDRPRAGVPRV RADGDCSQP in isoform 3. 2 PublicationsAdd BLAST75
Alternative sequenceiVSP_031900350 – 421GDSPG…RQSLS → VRPAAAGPGPLGPAQKLQGR GWRGEAILAVSSRPPREHSG ECISCSVLSFCKKRWMWGEK GMRPVCSLCPGG in isoform 5. 1 PublicationAdd BLAST72
Alternative sequenceiVSP_031901408 – 422DSDSQ…QSLSL → GTAPDYYIEEDADW in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST15
Alternative sequenceiVSP_031902422 – 775Missing in isoform 5. 1 PublicationAdd BLAST354
Alternative sequenceiVSP_031903423 – 775Missing in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST353

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY505119 mRNA Translation: AAS86434.1
AY505120 mRNA Translation: AAS86435.1
AY505121 mRNA Translation: AAS86436.1
AY505122 mRNA Translation: AAS86437.1
AB028949 mRNA Translation: BAA82978.1 Different initiation.
AL034395 Genomic DNA No translation available.
AL035405 Genomic DNA No translation available.
AL391215 Genomic DNA No translation available.
CH471167 Genomic DNA Translation: EAW51704.1
BC035501 mRNA Translation: AAH35501.3
BC036877 mRNA Translation: AAH36877.1 Sequence problems.
BC101637 mRNA Translation: AAI01638.1 Different initiation.
BC113621 mRNA Translation: AAI13622.1 Different initiation.
AB015329 mRNA Translation: BAA88115.1 Frameshift.
AK125794 mRNA Translation: BAC86294.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS152.2 [Q674X7-1]
CCDS30604.1 [Q674X7-3]
CCDS41267.1 [Q674X7-2]
CCDS41268.1 [Q674X7-4]

NCBI Reference Sequences

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RefSeqi
NP_001017999.1, NM_001017999.2 [Q674X7-4]
NP_001018000.1, NM_001018000.3 [Q674X7-3]
NP_001018001.1, NM_001018001.2 [Q674X7-4]
NP_056024.1, NM_015209.2 [Q674X7-2]
NP_963922.2, NM_201628.2 [Q674X7-1]
XP_016856260.1, XM_017000771.1 [Q674X7-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.368823

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000361144; ENSP00000354727; ENSG00000189337 [Q674X7-3]
ENST00000376030; ENSP00000365198; ENSG00000189337 [Q674X7-1]
ENST00000400797; ENSP00000383601; ENSG00000189337 [Q674X7-4]
ENST00000400798; ENSP00000383602; ENSG00000189337 [Q674X7-4]
ENST00000503743; ENSP00000426015; ENSG00000189337 [Q674X7-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23254

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23254

UCSC genome browser

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UCSCi
uc001avm.5 human [Q674X7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY505119 mRNA Translation: AAS86434.1
AY505120 mRNA Translation: AAS86435.1
AY505121 mRNA Translation: AAS86436.1
AY505122 mRNA Translation: AAS86437.1
AB028949 mRNA Translation: BAA82978.1 Different initiation.
AL034395 Genomic DNA No translation available.
AL035405 Genomic DNA No translation available.
AL391215 Genomic DNA No translation available.
CH471167 Genomic DNA Translation: EAW51704.1
BC035501 mRNA Translation: AAH35501.3
BC036877 mRNA Translation: AAH36877.1 Sequence problems.
BC101637 mRNA Translation: AAI01638.1 Different initiation.
BC113621 mRNA Translation: AAI13622.1 Different initiation.
AB015329 mRNA Translation: BAA88115.1 Frameshift.
AK125794 mRNA Translation: BAC86294.1 Different initiation.
CCDSiCCDS152.2 [Q674X7-1]
CCDS30604.1 [Q674X7-3]
CCDS41267.1 [Q674X7-2]
CCDS41268.1 [Q674X7-4]
RefSeqiNP_001017999.1, NM_001017999.2 [Q674X7-4]
NP_001018000.1, NM_001018000.3 [Q674X7-3]
NP_001018001.1, NM_001018001.2 [Q674X7-4]
NP_056024.1, NM_015209.2 [Q674X7-2]
NP_963922.2, NM_201628.2 [Q674X7-1]
XP_016856260.1, XM_017000771.1 [Q674X7-2]
UniGeneiHs.368823

3D structure databases

ProteinModelPortaliQ674X7
SMRiQ674X7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116858, 6 interactors
IntActiQ674X7, 13 interactors
MINTiQ674X7
STRINGi9606.ENSP00000365198

PTM databases

iPTMnetiQ674X7
PhosphoSitePlusiQ674X7

Polymorphism and mutation databases

BioMutaiKAZN
DMDMi172044653

Proteomic databases

EPDiQ674X7
jPOSTiQ674X7
MaxQBiQ674X7
PaxDbiQ674X7
PeptideAtlasiQ674X7
PRIDEiQ674X7
ProteomicsDBi65976
65977 [Q674X7-2]
65978 [Q674X7-3]
65979 [Q674X7-4]
65980 [Q674X7-5]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
23254
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361144; ENSP00000354727; ENSG00000189337 [Q674X7-3]
ENST00000376030; ENSP00000365198; ENSG00000189337 [Q674X7-1]
ENST00000400797; ENSP00000383601; ENSG00000189337 [Q674X7-4]
ENST00000400798; ENSP00000383602; ENSG00000189337 [Q674X7-4]
ENST00000503743; ENSP00000426015; ENSG00000189337 [Q674X7-2]
GeneIDi23254
KEGGihsa:23254
UCSCiuc001avm.5 human [Q674X7-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23254
DisGeNETi23254
EuPathDBiHostDB:ENSG00000189337.15

GeneCards: human genes, protein and diseases

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GeneCardsi
KAZN

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0000144
HGNCiHGNC:29173 KAZN
HPAiHPA032095
HPA032096
MIMi618301 gene
neXtProtiNX_Q674X7
OpenTargetsiENSG00000189337

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0249 Eukaryota
ENOG410XP8Z LUCA
GeneTreeiENSGT00940000154570
HOVERGENiHBG058718
InParanoidiQ674X7
OrthoDBi558442at2759
PhylomeDBiQ674X7
TreeFamiTF331216

Enzyme and pathway databases

ReactomeiR-HSA-6809371 Formation of the cornified envelope

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
KAZN human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
23254

Protein Ontology

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PROi
PR:Q674X7

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000189337 Expressed in 222 organ(s), highest expression level in cerebellum
ExpressionAtlasiQ674X7 baseline and differential
GenevisibleiQ674X7 HS

Family and domain databases

CDDicd09564 SAM_kazrin_repeat1, 1 hit
cd09567 SAM_kazrin_repeat2, 1 hit
cd09570 SAM_kazrin_repeat3, 1 hit
InterProiView protein in InterPro
IPR037614 Kazrin
IPR037613 Kazrin_SAM_rpt_1
IPR037615 Kazrin_SAM_rpt_2
IPR037616 Kazrin_SAM_rpt_3
IPR001660 SAM
IPR013761 SAM/pointed_sf
PANTHERiPTHR12776 PTHR12776, 1 hit
PfamiView protein in Pfam
PF00536 SAM_1, 2 hits
PF07647 SAM_2, 1 hit
SMARTiView protein in SMART
SM00454 SAM, 3 hits
SUPFAMiSSF47769 SSF47769, 3 hits
PROSITEiView protein in PROSITE
PS50105 SAM_DOMAIN, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKAZRN_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q674X7
Secondary accession number(s): B0QYQ0
, B1AK78, Q5TGF1, Q674X4, Q674X6, Q6ZUD1, Q8IYN7, Q8N409, Q9UIL2, Q9UPX4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: April 10, 2019
This is version 116 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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