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Protein

Cilia- and flagella-associated protein 91

Gene

MAATS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Biological processi

Names & Taxonomyi

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
Gene namesi
Name:MAATS1Imported
Synonyms:AAT11 Publication, C3orf15, CFAP91Curated
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000183833.16.
HGNCiHGNC:24010. MAATS1.
MIMi609910. gene.
neXtProtiNX_Q7Z4T9.

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi89876.
OpenTargetsiENSG00000183833.
PharmGKBiPA134904689.

Polymorphism and mutation databases

BioMutaiMAATS1.
DMDMi300669603.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000644171 – 767Cilia- and flagella-associated protein 91Add BLAST767

Post-translational modificationi

Phosphorylated by PKA.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ7Z4T9.
PeptideAtlasiQ7Z4T9.
PRIDEiQ7Z4T9.

PTM databases

iPTMnetiQ7Z4T9.
PhosphoSitePlusiQ7Z4T9.

Expressioni

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

BgeeiENSG00000183833.
CleanExiHS_C3orf15.
ExpressionAtlasiQ7Z4T9. baseline and differential.
GenevisibleiQ7Z4T9. HS.

Interactioni

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

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi124630. 5 interactors.
IntActiQ7Z4T9. 5 interactors.
STRINGi9606.ENSP00000273390.

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IG6N. Eukaryota.
ENOG410XQ2Y. LUCA.
GeneTreeiENSGT00390000003024.
HOVERGENiHBG079422.
InParanoidiQ7Z4T9.
OMAiRNLHEHK.
OrthoDBiEOG091G02QA.
PhylomeDBiQ7Z4T9.
TreeFamiTF328648.

Family and domain databases

InterProiView protein in InterPro
IPR026720. CFAP91.
IPR032840. CFAP91_dom.
PANTHERiPTHR22455. PTHR22455. 2 hits.
PfamiView protein in Pfam
PF14738. PaaSYMP. 1 hit.

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket

Note: Additional isoforms (AAT-1L and AAT-1S) may exist.
Isoform 7 (identifier: Q7Z4T9-7) [UniParc]FASTAAdd to basket
Also known as: AAT1-alpha

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
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
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.

Note: No experimental confirmation available.
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.
Show »
Length:31
Mass (Da):3,481
Checksum:i227F73754782900C
GO

Sequence cautioni

The sequence BAB60902 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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
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:
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.
XP_011511579.1. XM_011513277.1. [Q7Z4T9-6]
UniGeneiHs.341906.

Genome annotation databases

EnsembliENST00000273390; ENSP00000273390; ENSG00000183833. [Q7Z4T9-7]
ENST00000463700; ENSP00000419489; ENSG00000183833. [Q7Z4T9-2]
GeneIDi89876.
KEGGihsa:89876.
UCSCiuc003edc.3. human. [Q7Z4T9-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCFA91_HUMAN
AccessioniPrimary (citable) accession number: Q7Z4T9
Secondary accession number(s): A0AVK2
, A8K1J9, B3KP23, B4DG52, B4DZ14, C9JUG4, Q68DX2, Q8TD41, Q96A45, Q96JE8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: March 28, 2018
Last modified: March 28, 2018
This is version 116 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome