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Protein

Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1

Gene

ASZ1

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

Functioni

Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with pi-bodies suggests a participation in the primary piRNAs metabolic process. Required prior to the pachytene stage to facilitate the production of multiple types of piRNAs, including those associated with repeats involved in the regulation of retrotransposons. May act by mediating protein-protein interactions during germ cell maturation (By similarity).By similarity

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, Meiosis, RNA-mediated gene silencing, Spermatogenesis

Enzyme and pathway databases

ReactomeiR-HSA-5601884 PIWI-interacting RNA (piRNA) biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1
Alternative name(s):
Ankyrin-like protein 1
Germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein
Gene namesi
Name:ASZ1Imported
Synonyms:ALP1, ANKL1, C7orf7, GASZImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000154438.7
HGNCiHGNC:1350 ASZ1
MIMi605797 gene
neXtProtiNX_Q8WWH4

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi136991
OpenTargetsiENSG00000154438
PharmGKBiPA25950

Polymorphism and mutation databases

BioMutaiASZ1
DMDMi34921898

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000669691 – 475Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1Add BLAST475

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei17PhosphoserineBy similarity1
Modified residuei18PhosphoserineBy similarity1
Modified residuei20PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8WWH4
PeptideAtlasiQ8WWH4
PRIDEiQ8WWH4
ProteomicsDBi74886

PTM databases

iPTMnetiQ8WWH4
PhosphoSitePlusiQ8WWH4

Expressioni

Tissue specificityi

Expressed exclusively in the testis and ovary and at higher levels in the adult testis compared with the adult ovary.1 Publication

Gene expression databases

BgeeiENSG00000154438 Expressed in 36 organ(s), highest expression level in testis
CleanExiHS_ASZ1
ExpressionAtlasiQ8WWH4 baseline and differential
GenevisibleiQ8WWH4 HS

Organism-specific databases

HPAiHPA020558

Interactioni

Subunit structurei

Interacts with DDX4, PIWIL1, RANBP9 and TDRD1.By similarity

Protein-protein interaction databases

BioGridi126466, 1 interactor
IntActiQ8WWH4, 11 interactors
STRINGi9606.ENSP00000284629

Structurei

3D structure databases

ProteinModelPortaliQ8WWH4
SMRiQ8WWH4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati45 – 74ANK 1CuratedAdd BLAST30
Repeati78 – 107ANK 2CuratedAdd BLAST30
Repeati110 – 144ANK 3CuratedAdd BLAST35
Repeati148 – 177ANK 4CuratedAdd BLAST30
Repeati181 – 210ANK 5CuratedAdd BLAST30
Repeati214 – 243ANK 6CuratedAdd BLAST30
Domaini272 – 334SAMCuratedAdd BLAST63

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00880000138051
HOGENOMiHOG000034114
HOVERGENiHBG050599
InParanoidiQ8WWH4
KOiK18410
OMAiTANHLQH
OrthoDBiEOG091G0TMP
PhylomeDBiQ8WWH4
TreeFamiTF352216

Family and domain databases

CDDicd00204 ANK, 2 hits
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
PfamiView protein in Pfam
PF00023 Ank, 1 hit
PF12796 Ank_2, 1 hit
PF07647 SAM_2, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 5 hits
SUPFAMiSSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 3 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WWH4-1) [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
MAASALRGLP VAGGGESSES EDDGWEIGYL DRTSQKLKRL LPIEEKKEKF
60 70 80 90 100
KKAMTIGDVS LVQELLDSGI SVDSNFQYGW TPLMYAASVA NAELVRVLLD
110 120 130 140 150
RGANASFEKD KQSILITACS AHGSEEQILK CVELLLSRNA DPNVACRRLM
160 170 180 190 200
TPIMYAARDG HTQVVALLVA HGAEVNTQDE NGYTALTWAA RQGHKNIVLK
210 220 230 240 250
LLELGANKML QTKDGKMPSE IAKRNKHHEI FNLLSFTLNP LEGKLQQLTK
260 270 280 290 300
EDTICKILTT DSDREKDHIF SSYTAFGDLE VFLHGLGLEH MTDLLKERDI
310 320 330 340 350
TLRHLLTMRE DEFTKNGITS KDQQKILAAL KELQVEEIQF GELSEETKLE
360 370 380 390 400
ISGDEFLNFL LKLNKQCGHL ITAVQNVITE LPVNSQKITL EWASPQNFTS
410 420 430 440 450
VCEELVNNVE DLSEKVCKLK DLIQKLQNER ENDPTHIQLR EEVSTWNSRI
460 470
LKRTAITICG FGFLLFICKL TFQRK
Length:475
Mass (Da):53,458
Last modified:March 1, 2002 - v1
Checksum:i71B317BC07080434
GO
Isoform 2 (identifier: Q8WWH4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     388-396: Missing.

Note: No experimental confirmation available.
Show »
Length:466
Mass (Da):52,432
Checksum:iC816EEB21D718E3D
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WDQ2F8WDQ2_HUMAN
Ankyrin repeat, SAM and basic leuci...
ASZ1
148Annotation score:
C9JP59C9JP59_HUMAN
Ankyrin repeat, SAM and basic leuci...
ASZ1
44Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024175216K → T. Corresponds to variant dbSNP:rs1029396Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056918388 – 396Missing in isoform 2. 1 Publication9

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF461259 mRNA Translation: AAL68815.1
AK093445 mRNA Translation: BAC04167.1
CH236947 Genomic DNA Translation: EAL24354.1
BC126186 mRNA Translation: AAI26187.1
BC126188 mRNA Translation: AAI26189.1
BC144212 mRNA Translation: AAI44213.1
CCDSiCCDS5772.1 [Q8WWH4-1]
RefSeqiNP_001288750.1, NM_001301821.1 [Q8WWH4-2]
NP_001288751.1, NM_001301822.1
NP_570124.1, NM_130768.2 [Q8WWH4-1]
UniGeneiHs.352412

Genome annotation databases

EnsembliENST00000284629; ENSP00000284629; ENSG00000154438 [Q8WWH4-1]
GeneIDi136991
KEGGihsa:136991
UCSCiuc003vjb.2 human [Q8WWH4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF461259 mRNA Translation: AAL68815.1
AK093445 mRNA Translation: BAC04167.1
CH236947 Genomic DNA Translation: EAL24354.1
BC126186 mRNA Translation: AAI26187.1
BC126188 mRNA Translation: AAI26189.1
BC144212 mRNA Translation: AAI44213.1
CCDSiCCDS5772.1 [Q8WWH4-1]
RefSeqiNP_001288750.1, NM_001301821.1 [Q8WWH4-2]
NP_001288751.1, NM_001301822.1
NP_570124.1, NM_130768.2 [Q8WWH4-1]
UniGeneiHs.352412

3D structure databases

ProteinModelPortaliQ8WWH4
SMRiQ8WWH4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126466, 1 interactor
IntActiQ8WWH4, 11 interactors
STRINGi9606.ENSP00000284629

PTM databases

iPTMnetiQ8WWH4
PhosphoSitePlusiQ8WWH4

Polymorphism and mutation databases

BioMutaiASZ1
DMDMi34921898

Proteomic databases

PaxDbiQ8WWH4
PeptideAtlasiQ8WWH4
PRIDEiQ8WWH4
ProteomicsDBi74886

Protocols and materials databases

DNASUi136991
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000284629; ENSP00000284629; ENSG00000154438 [Q8WWH4-1]
GeneIDi136991
KEGGihsa:136991
UCSCiuc003vjb.2 human [Q8WWH4-1]

Organism-specific databases

CTDi136991
DisGeNETi136991
EuPathDBiHostDB:ENSG00000154438.7
GeneCardsiASZ1
H-InvDBiHIX0167896
HGNCiHGNC:1350 ASZ1
HPAiHPA020558
MIMi605797 gene
neXtProtiNX_Q8WWH4
OpenTargetsiENSG00000154438
PharmGKBiPA25950
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00880000138051
HOGENOMiHOG000034114
HOVERGENiHBG050599
InParanoidiQ8WWH4
KOiK18410
OMAiTANHLQH
OrthoDBiEOG091G0TMP
PhylomeDBiQ8WWH4
TreeFamiTF352216

Enzyme and pathway databases

ReactomeiR-HSA-5601884 PIWI-interacting RNA (piRNA) biogenesis

Miscellaneous databases

ChiTaRSiASZ1 human
GeneWikiiASZ1
GenomeRNAii136991
PROiPR:Q8WWH4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000154438 Expressed in 36 organ(s), highest expression level in testis
CleanExiHS_ASZ1
ExpressionAtlasiQ8WWH4 baseline and differential
GenevisibleiQ8WWH4 HS

Family and domain databases

CDDicd00204 ANK, 2 hits
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
PfamiView protein in Pfam
PF00023 Ank, 1 hit
PF12796 Ank_2, 1 hit
PF07647 SAM_2, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 5 hits
SUPFAMiSSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiASZ1_HUMAN
AccessioniPrimary (citable) accession number: Q8WWH4
Secondary accession number(s): A0AV27, A4D0V0, B7ZM20
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: March 1, 2002
Last modified: November 7, 2018
This is version 148 of the entry and version 1 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

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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