Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 131 (11 Dec 2019)
Sequence version 3 (28 Mar 2018)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Cilia- and flagella-associated protein 91

Gene

MAATS1

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

May play a role in spermatogenesis (PubMed:12223483). May regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity).By similarity1 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>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:
Cilia- and flagella-associated protein 91Curated
Short name:
CFAP91Curated
Alternative name(s):
AMY-1-associating protein expressed in testis 11 Publication
Short name:
AAT-11 Publication
MYCBP/AMY-1-associated testis-expressed protein 1Curated
Protein MAATS1Curated
<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:MAATS1Imported
Synonyms:AAT11 Publication, C3orf15, CFAP91Curated
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000183833.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24010 MAATS1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609910 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7Z4T9

<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

<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>Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Mitochondrion

<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
89876

Open Targets

More...
OpenTargetsi
ENSG00000183833

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134904689

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q7Z4T9 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MAATS1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
300669603

<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_00000644171 – 767Cilia- and flagella-associated protein 91Add BLAST767

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by PKA.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q7Z4T9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q7Z4T9

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

More...
PaxDbi
Q7Z4T9

PeptideAtlas

More...
PeptideAtlasi
Q7Z4T9

PRoteomics IDEntifications database

More...
PRIDEi
Q7Z4T9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
69234 [Q7Z4T9-1]
69235 [Q7Z4T9-2]
69236 [Q7Z4T9-3]
69238 [Q7Z4T9-5]
69239 [Q7Z4T9-6]
69240 [Q7Z4T9-7]
69241 [Q7Z4T9-8]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7Z4T9

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

More...
PhosphoSitePlusi
Q7Z4T9

<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 1 is strongly expressed in the liver. Isoform 7 is widely expressed, but strongly expressed in all spermatogenesis-related tissues, including the testis, the epithelium of cauda and the corpus epididymis, as well as the spermatid and mature sperm. Isoform 7 is also expressed in Leydig cells. Isoform 3 is expressed in the testis.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000183833 Expressed in 166 organ(s), highest expression level in bronchial epithelial cell

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q7Z4T9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q7Z4T9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA074084

<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

Interacts with MYCBP and AKAP1.

Part of a complex containing MYCBP, AKAP1 and PRKAR2B. Isoform 3 does not interact with MYCBP.

2 Publications

<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

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
124630, 5 interactors

Protein interaction database and analysis system

More...
IntActi
Q7Z4T9, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000273390

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q7Z4T9 protein

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IG6N Eukaryota
ENOG410XQ2Y LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000003024

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7Z4T9

Identification of Orthologs from Complete Genome Data

More...
OMAi
VQTMYRD

Database of Orthologous Groups

More...
OrthoDBi
496618at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q7Z4T9

TreeFam database of animal gene trees

More...
TreeFami
TF328648

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026720 CFAP91
IPR032840 CFAP91_dom

The PANTHER Classification System

More...
PANTHERi
PTHR22455 PTHR22455, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14738 CFAP91, 1 hit

<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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)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 7 <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 promoter usage and alternative splicing. AlignAdd to basket
Note: Additional isoforms (AAT-1L and AAT-1S) may exist.

This entry has 7 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 7 (identifier: Q7Z4T9-7) [UniParc]FASTAAdd to basket
Also known as: AAT1-alpha

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MSHAVTIEEP QAQPQVSQTR YRERSRAGSH ISSNRAYDFL YDPLFIVSSE
60 70 80 90 100
KDHTQANIQA TLIRSRLRKV PRFKTMFSNL IHYPRYSLYW SKSDPVPPFI
110 120 130 140 150
SREWKGHKEK HREALRQLTT TDASFQMPKE VYEDPEVTGK NRYKYFERPF
160 170 180 190 200
LPFFQQMPFN VVYAVSKAEP YTFPPTSTKH LSIPSKSTVG TQTDYRDADV
210 220 230 240 250
QTDPYSAEYV VCQDSIPELL TLATLTWGRG LPAGQAEVEM IERAREKRAW
260 270 280 290 300
EASLPALSDT SQFEKRRKMM NEMERKEWAF REQEIEKLQE IRLEVLKELL
310 320 330 340 350
RKREENQNEV NMKHLNARWS KLQEGKEAKM AKIQRTHVST IRKLVGKRKN
360 370 380 390 400
IEGKLERRNI IKDYSDYASQ VYGPLSRLGC FPDNNSEDFV VKNYYLNTYE
410 420 430 440 450
GLVELESCLP DFVTQPQIRA PKPKVITTKA GFLKRAARLD YELAEVHKAL
460 470 480 490 500
LDKKNKVLEV KKPPRFLQRN PIPQPRLPTP TLEMTSNEEE EMEMAVIYLQ
510 520 530 540 550
KLLRGRVVQN MMFEGKEKRL ELIQELRTCH ALQEDEKLVK KAEKQVTLAL
560 570 580 590 600
QRQRNLHEHK VSLVENHLAG LEGRALADMF DFLSKELVRL QEERRIHAFV
610 620 630 640 650
MLAERQRRVR EAEESGRRQV EKQRLREEDE IFKEVVKVHH STISSYLEDI
660 670 680 690 700
ILNTEANTAE EQARAEIEKM AEKINDIAYE MESRRTYLQS EEIVAELVYS
710 720 730 740 750
FLIPEVQKYF VKEKVRNAQR KHILAAHQII HSYTESMVQK KLTEGEQDEA
760
SNAAMLLEKE TQNENNS
Length:767
Mass (Da):89,955
Last modified:March 28, 2018 - v3
<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:i7EBE6F798C496845
GO
Isoform 1 (identifier: Q7Z4T9-1) [UniParc]FASTAAdd to basket
Also known as: AAT-1M

The sequence of this isoform differs from the canonical sequence as follows:
     330-493: Missing.

Show »
Length:603
Mass (Da):70,999
Checksum:i9E12D39628531C85
GO
Isoform 2 (identifier: Q7Z4T9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     229-238: RGLPAGQAEV → ELVNLLTIGR
     239-767: Missing.

Show »
Length:238
Mass (Da):27,681
Checksum:i3027802089EE0021
GO
Isoform 3 (identifier: Q7Z4T9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-67: MSHAVTIEEPQAQPQVSQTRYRERSRAGSHISSNRAYDFLYDPLFIVSSEKDHTQANIQATLIRSRL → MIFCT

Show »
Length:705
Mass (Da):82,865
Checksum:iD1B7B755EB991FCD
GO
Isoform 6 (identifier: Q7Z4T9-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-126: Missing.

Show »
Length:641
Mass (Da):75,093
Checksum:i20323F064BBBE3A7
GO
Isoform 8 (identifier: Q7Z4T9-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MSHAVTIEEPQAQPQVSQTRYRERSRAGSHISSNRAYDFLY → MIFCTVRTAADLPLRPSPPRP

Show »
Length:747
Mass (Da):87,525
Checksum:iC6B6FB166DEA3DA1
GO
Isoform 5 (identifier: Q7Z4T9-5) [UniParc]FASTAAdd to basket
Also known as: AAT1-beta, AAT1-gamma

The sequence of this isoform differs from the canonical sequence as follows:
     1-736: Missing.

Note: May be produced by alternative promoter usage.Curated
Show »
Length:31
Mass (Da):3,481
Checksum:i227F73754782900C
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WC74F8WC74_HUMAN
Cilia- and flagella-associated prot...
MAATS1
55Annotation 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>
F8WEV1F8WEV1_HUMAN
Cilia- and flagella-associated prot...
MAATS1
131Annotation 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>
F8WF10F8WF10_HUMAN
Cilia- and flagella-associated prot...
MAATS1
47Annotation 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>
H7C5C8H7C5C8_HUMAN
Cilia- and flagella-associated prot...
MAATS1
101Annotation 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 BAB60902 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti311N → D in BAG51535 (PubMed:14702039).Curated1
Sequence conflicti362K → R in BAF82603 (PubMed:14702039).Curated1
Sequence conflicti508V → I in AAP97317 (Ref. 2) Curated1
Sequence conflicti624R → C in BAG51535 (PubMed:14702039).Curated1
Sequence conflicti636 – 637VK → A in BAB60902 (PubMed:12223483).Curated2
Sequence conflicti649D → A in CAH18098 (PubMed:17974005).Curated1
Sequence conflicti680E → G in BAG63926 (PubMed:14702039).Curated1

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_030243207A → P4 PublicationsCorresponds to variant dbSNP:rs6438544Ensembl.1
Natural variantiVAR_030244253S → T. Corresponds to variant dbSNP:rs9817771Ensembl.1
Natural variantiVAR_030245320S → C. Corresponds to variant dbSNP:rs9819218Ensembl.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_0594991 – 736Missing in isoform 5. Add BLAST736
Alternative sequenceiVSP_0395031 – 126Missing in isoform 6. 1 PublicationAdd BLAST126
Alternative sequenceiVSP_0149071 – 67MSHAV…IRSRL → MIFCT in isoform 3. 1 PublicationAdd BLAST67
Alternative sequenceiVSP_0395041 – 41MSHAV…YDFLY → MIFCTVRTAADLPLRPSPPR P in isoform 8. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_014910229 – 238RGLPAGQAEV → ELVNLLTIGR in isoform 2. 1 Publication10
Alternative sequenceiVSP_014911239 – 767Missing in isoform 2. 1 PublicationAdd BLAST529
Alternative sequenceiVSP_059500330 – 493Missing in isoform 1. Add BLAST164

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB063296 mRNA Translation: BAB60902.1 Different initiation.
AB063297 mRNA Translation: BAB60903.1
AB063298 mRNA Translation: BAB60904.1
AF440403 mRNA Translation: AAP97317.1
AF497717 mRNA Translation: AAM19218.1
AK055558 mRNA Translation: BAG51535.1
AK289914 mRNA Translation: BAF82603.1
AK294413 mRNA Translation: BAG57663.1
AK302699 mRNA Translation: BAG63926.1
CR749242 mRNA Translation: CAH18098.1
AC117466 Genomic DNA No translation available.
AC069444 Genomic DNA No translation available.
BC126394 mRNA Translation: AAI26395.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2994.1 [Q7Z4T9-7]

NCBI Reference Sequences

More...
RefSeqi
NP_001307245.1, NM_001320316.1
NP_001307246.1, NM_001320317.1
NP_001307247.1, NM_001320318.1
NP_203528.2, NM_033364.3 [Q7Z4T9-7]
XP_011511579.1, XM_011513277.1 [Q7Z4T9-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000273390; ENSP00000273390; ENSG00000183833 [Q7Z4T9-7]
ENST00000463700; ENSP00000419489; ENSG00000183833 [Q7Z4T9-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
89876

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:89876

UCSC genome browser

More...
UCSCi
uc003edc.3 human [Q7Z4T9-7]

Keywords - Coding sequence diversityi

Alternative promoter usage, 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
AB063296 mRNA Translation: BAB60902.1 Different initiation.
AB063297 mRNA Translation: BAB60903.1
AB063298 mRNA Translation: BAB60904.1
AF440403 mRNA Translation: AAP97317.1
AF497717 mRNA Translation: AAM19218.1
AK055558 mRNA Translation: BAG51535.1
AK289914 mRNA Translation: BAF82603.1
AK294413 mRNA Translation: BAG57663.1
AK302699 mRNA Translation: BAG63926.1
CR749242 mRNA Translation: CAH18098.1
AC117466 Genomic DNA No translation available.
AC069444 Genomic DNA No translation available.
BC126394 mRNA Translation: AAI26395.1
CCDSiCCDS2994.1 [Q7Z4T9-7]
RefSeqiNP_001307245.1, NM_001320316.1
NP_001307246.1, NM_001320317.1
NP_001307247.1, NM_001320318.1
NP_203528.2, NM_033364.3 [Q7Z4T9-7]
XP_011511579.1, XM_011513277.1 [Q7Z4T9-6]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi124630, 5 interactors
IntActiQ7Z4T9, 6 interactors
STRINGi9606.ENSP00000273390

PTM databases

iPTMnetiQ7Z4T9
PhosphoSitePlusiQ7Z4T9

Polymorphism and mutation databases

BioMutaiMAATS1
DMDMi300669603

Proteomic databases

jPOSTiQ7Z4T9
MassIVEiQ7Z4T9
PaxDbiQ7Z4T9
PeptideAtlasiQ7Z4T9
PRIDEiQ7Z4T9
ProteomicsDBi69234 [Q7Z4T9-1]
69235 [Q7Z4T9-2]
69236 [Q7Z4T9-3]
69238 [Q7Z4T9-5]
69239 [Q7Z4T9-6]
69240 [Q7Z4T9-7]
69241 [Q7Z4T9-8]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
89876

Genome annotation databases

EnsembliENST00000273390; ENSP00000273390; ENSG00000183833 [Q7Z4T9-7]
ENST00000463700; ENSP00000419489; ENSG00000183833 [Q7Z4T9-2]
GeneIDi89876
KEGGihsa:89876
UCSCiuc003edc.3 human [Q7Z4T9-7]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
89876
DisGeNETi89876
EuPathDBiHostDB:ENSG00000183833.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MAATS1
HGNCiHGNC:24010 MAATS1
HPAiHPA074084
MIMi609910 gene
neXtProtiNX_Q7Z4T9
OpenTargetsiENSG00000183833
PharmGKBiPA134904689

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IG6N Eukaryota
ENOG410XQ2Y LUCA
GeneTreeiENSGT00390000003024
InParanoidiQ7Z4T9
OMAiVQTMYRD
OrthoDBi496618at2759
PhylomeDBiQ7Z4T9
TreeFamiTF328648

Miscellaneous databases

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

More...
ChiTaRSi
MAATS1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
C3orf15

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

More...
GenomeRNAii
89876
PharosiQ7Z4T9 Tdark

Protein Ontology

More...
PROi
PR:Q7Z4T9
RNActiQ7Z4T9 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000183833 Expressed in 166 organ(s), highest expression level in bronchial epithelial cell
ExpressionAtlasiQ7Z4T9 baseline and differential
GenevisibleiQ7Z4T9 HS

Family and domain databases

InterProiView protein in InterPro
IPR026720 CFAP91
IPR032840 CFAP91_dom
PANTHERiPTHR22455 PTHR22455, 1 hit
PfamiView protein in Pfam
PF14738 CFAP91, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiCFA91_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: Q7Z4T9
Secondary accession number(s): A0AVK2
, A8K1J9, B3KP23, B4DG52, B4DZ14, C9JUG4, Q68DX2, Q8TD41, Q96A45, Q96JE8
<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: July 19, 2005
Last sequence update: March 28, 2018
Last modified: December 11, 2019
This is version 131 of the entry and version 3 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

Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again