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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: Annotation score: 4 out of 5-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 - Molecular functioni

  • signal transducer activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, 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

HGNCiHGNC:1350. ASZ1.

Subcellular locationi

  • Cytoplasm By similarity

  • Note: Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. Specifically localizes to pi-bodies, a subset of the nuage which contains primary piRNAs (By similarity).By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25950.

Polymorphism and mutation databases

BioMutaiASZ1.
DMDMi34921898.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 475475Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1PRO_0000066969Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei17 – 171PhosphoserineBy similarity
Modified residuei18 – 181PhosphoserineBy similarity
Modified residuei20 – 201PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8WWH4.
PRIDEiQ8WWH4.

PTM databases

iPTMnetiQ8WWH4.
PhosphoSiteiQ8WWH4.

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

BgeeiQ8WWH4.
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 interaction.
STRINGi9606.ENSP00000284629.

Structurei

3D structure databases

ProteinModelPortaliQ8WWH4.
SMRiQ8WWH4. Positions 45-267.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati45 – 7430ANK 1CuratedAdd
BLAST
Repeati78 – 10730ANK 2CuratedAdd
BLAST
Repeati110 – 14435ANK 3CuratedAdd
BLAST
Repeati148 – 17730ANK 4CuratedAdd
BLAST
Repeati181 – 21030ANK 5CuratedAdd
BLAST
Repeati214 – 24330ANK 6CuratedAdd
BLAST
Domaini272 – 33463SAMCuratedAdd
BLAST

Sequence similaritiesi

Contains 6 ANK repeats.PROSITE-ProRule annotationCurated

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00840000129724.
HOGENOMiHOG000034114.
HOVERGENiHBG050599.
InParanoidiQ8WWH4.
KOiK18410.
OMAiFTKNGIT.
OrthoDBiEOG7J181V.
PhylomeDBiQ8WWH4.
TreeFamiTF352216.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 1 hit.
PF07647. SAM_2. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 5 hits.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti216 – 2161K → T.
Corresponds to variant rs1029396 [ dbSNP | Ensembl ].
VAR_024175

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei388 – 3969Missing in isoform 2. 1 PublicationVSP_056918

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

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. Positions 45-267.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126466. 1 interaction.
STRINGi9606.ENSP00000284629.

PTM databases

iPTMnetiQ8WWH4.
PhosphoSiteiQ8WWH4.

Polymorphism and mutation databases

BioMutaiASZ1.
DMDMi34921898.

Proteomic databases

PaxDbiQ8WWH4.
PRIDEiQ8WWH4.

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.
GeneCardsiASZ1.
H-InvDBHIX0167896.
HGNCiHGNC:1350. ASZ1.
HPAiHPA020558.
MIMi605797. gene.
neXtProtiNX_Q8WWH4.
PharmGKBiPA25950.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00840000129724.
HOGENOMiHOG000034114.
HOVERGENiHBG050599.
InParanoidiQ8WWH4.
KOiK18410.
OMAiFTKNGIT.
OrthoDBiEOG7J181V.
PhylomeDBiQ8WWH4.
TreeFamiTF352216.

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiASZ1.
GenomeRNAii136991.
PROiQ8WWH4.
SOURCEiSearch...

Gene expression databases

BgeeiQ8WWH4.
CleanExiHS_ASZ1.
ExpressionAtlasiQ8WWH4. baseline and differential.
GenevisibleiQ8WWH4. HS.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 1 hit.
PF07647. SAM_2. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 5 hits.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of Gasz, an evolutionarily conserved gene expressed exclusively in germ cells and encoding a protein with four ankyrin repeats, a sterile-alpha motif, and a basic leucine zipper."
    Yan W., Rajkovic A., Viveiros M.M., Burns K.H., Eppig J.J., Matzuk M.M.
    Mol. Endocrinol. 16:1168-1184(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Ovary1 Publication and Testis1 Publication.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Testis.
  3. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).

Entry informationi

Entry nameiASZ1_HUMAN
AccessioniPrimary (citable) accession number: Q8WWH4
Secondary accession number(s): A0AV27, A4D0V0, B7ZM20
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: March 1, 2002
Last modified: June 8, 2016
This is version 127 of the entry and version 1 of the sequence. [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 chromosome 7
    Human chromosome 7: 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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.