SEP14_HUMAN
ID SEP14_HUMAN Reviewed; 432 AA.
AC Q6ZU15; A6NCC2; B4DXD6;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 10-JUL-2007, sequence version 2.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=Septin-14 {ECO:0000312|HGNC:HGNC:33280};
GN Name=SEPTIN14 {ECO:0000312|HGNC:HGNC:33280};
GN Synonyms=SEPT14 {ECO:0000312|HGNC:HGNC:33280};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP INTERACTION WITH SEPTIN9, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=17922164; DOI=10.1007/s00335-007-9065-x;
RA Peterson E.A., Kalikin L.M., Steels J.D., Estey M.P., Trimble W.S.,
RA Petty E.M.;
RT "Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-
RT specific septin.";
RL Mamm. Genome 18:796-807(2007).
RN [4]
RP SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, AND TISSUE SPECIFICITY.
RX PubMed=32249155; DOI=10.1016/j.repbio.2020.03.007;
RA Vahabi Barzi N., Kakavand K., Sodeifi N., Ghezelayagh Z., Sabbaghian M.;
RT "Expression and localization of Septin 14 gene and protein in infertile men
RT testis.";
RL Reprod. Biol. 20:164-168(2020).
RN [5]
RP VARIANTS THR-123 AND THR-333, CHARACTERIZATION OF VARIANTS THR-123 AND
RP THR-333, AND SUBCELLULAR LOCATION.
RX PubMed=31450874; DOI=10.3390/jcm8091297;
RA Wang Y.Y., Lai T.H., Chen M.F., Lee H.L., Kuo P.L., Lin Y.H.;
RT "SEPT14 Mutations and Teratozoospermia: Genetic Effects on Sperm Head
RT Morphology and DNA Integrity.";
RL J. Clin. Med. 8:0-0(2019).
RN [6]
RP CHARACTERIZATION OF VARIANTS THR-123 AND THR-333, FUNCTION, AND INTERACTION
RP WITH ACTN4.
RX PubMed=33228246; DOI=10.3390/biomedicines8110518;
RA Lin Y.H., Huang C.Y., Ke C.C., Wang Y.Y., Lai T.H., Liu H.C., Ku W.C.,
RA Chan C.C., Lin Y.H.;
RT "ACTN4 Mediates SEPT14 Mutation-Induced Sperm Head Defects.";
RL Biomedicines 8:0-0(2020).
CC -!- FUNCTION: Filament-forming cytoskeletal GTPase (Probable). Involved in
CC the migration of cortical neurons and the formation of neuron leading
CC processes during embryonic development (By similarity). Plays a role in
CC sperm head formation during spermiogenesis, potentially via
CC facilitating localization of ACTN4 to cell filaments (PubMed:33228246).
CC {ECO:0000250|UniProtKB:Q9DA97, ECO:0000269|PubMed:33228246,
CC ECO:0000305}.
CC -!- SUBUNIT: Septins polymerize into heterooligomeric protein complexes
CC that form filaments, and can associate with cellular membranes, actin
CC filaments and microtubules. GTPase activity is required for filament
CC formation. Interacts with ACTN4 (PubMed:33228246). Interacts with
CC SEPTIN9 (PubMed:17922164). Interacts (via C-terminus) with SEPTIN4 (By
CC similarity). {ECO:0000250, ECO:0000250|UniProtKB:Q9DA97,
CC ECO:0000269|PubMed:17922164, ECO:0000269|PubMed:33228246}.
CC -!- INTERACTION:
CC Q6ZU15; Q9H6L4: ARMC7; NbExp=3; IntAct=EBI-2009297, EBI-742909;
CC Q6ZU15; Q9H5Z6-2: FAM124B; NbExp=3; IntAct=EBI-2009297, EBI-11986315;
CC Q6ZU15; Q9H8Y8: GORASP2; NbExp=3; IntAct=EBI-2009297, EBI-739467;
CC Q6ZU15; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-2009297, EBI-741158;
CC Q6ZU15; Q9UHD8-1: SEPTIN9; NbExp=3; IntAct=EBI-2009297, EBI-851558;
CC Q6ZU15; Q9UHD8-3: SEPTIN9; NbExp=3; IntAct=EBI-2009297, EBI-851569;
CC Q6ZU15; Q9BRG1: VPS25; NbExp=3; IntAct=EBI-2009297, EBI-741945;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17922164}.
CC Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17922164,
CC ECO:0000269|PubMed:31450874}. Cell projection, axon
CC {ECO:0000250|UniProtKB:Q9DA97}. Cell projection, dendrite
CC {ECO:0000250|UniProtKB:Q9DA97}. Perikaryon
CC {ECO:0000250|UniProtKB:Q9DA97}. Cytoplasm, perinuclear region
CC {ECO:0000250|UniProtKB:Q9DA97}. Cytoplasmic vesicle, secretory vesicle,
CC acrosome {ECO:0000269|PubMed:32249155}. Note=Colocalizes with actin
CC stress fibers (PubMed:17922164). Expressed in the perinuclear rim and
CC manchette structure in early elongating spermatids during
CC spermiogenesis (By similarity). {ECO:0000250|UniProtKB:Q9DA97,
CC ECO:0000269|PubMed:17922164}.
CC -!- TISSUE SPECIFICITY: Testis-specific (at protein level).
CC {ECO:0000269|PubMed:17922164, ECO:0000269|PubMed:32249155}.
CC -!- DEVELOPMENTAL STAGE: Expressed in all cell stages of spermatogenesis.
CC {ECO:0000269|PubMed:32249155}.
CC -!- SIMILARITY: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like
CC GTPase superfamily. Septin GTPase family. {ECO:0000255|PROSITE-
CC ProRule:PRU01056}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC86412.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK126048; BAC86412.1; ALT_INIT; mRNA.
DR EMBL; AK301928; BAG63348.1; -; mRNA.
DR EMBL; AC092647; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS5519.2; -.
DR RefSeq; NP_997249.2; NM_207366.2.
DR RefSeq; XP_011513675.1; XM_011515373.2.
DR AlphaFoldDB; Q6ZU15; -.
DR SMR; Q6ZU15; -.
DR BioGRID; 131376; 28.
DR IntAct; Q6ZU15; 17.
DR STRING; 9606.ENSP00000373627; -.
DR iPTMnet; Q6ZU15; -.
DR PhosphoSitePlus; Q6ZU15; -.
DR BioMuta; SEPT14; -.
DR DMDM; 152112291; -.
DR jPOST; Q6ZU15; -.
DR MassIVE; Q6ZU15; -.
DR MaxQB; Q6ZU15; -.
DR PaxDb; Q6ZU15; -.
DR PeptideAtlas; Q6ZU15; -.
DR PRIDE; Q6ZU15; -.
DR ProteomicsDB; 68306; -.
DR Antibodypedia; 56888; 97 antibodies from 20 providers.
DR DNASU; 346288; -.
DR Ensembl; ENST00000388975.4; ENSP00000373627.3; ENSG00000154997.9.
DR GeneID; 346288; -.
DR KEGG; hsa:346288; -.
DR MANE-Select; ENST00000388975.4; ENSP00000373627.3; NM_207366.3; NP_997249.2.
DR UCSC; uc003tqz.2; human.
DR CTD; 346288; -.
DR DisGeNET; 346288; -.
DR GeneCards; SEPTIN14; -.
DR HGNC; HGNC:33280; SEPTIN14.
DR HPA; ENSG00000154997; Tissue enriched (testis).
DR MalaCards; SEPTIN14; -.
DR MIM; 612140; gene.
DR neXtProt; NX_Q6ZU15; -.
DR OpenTargets; ENSG00000154997; -.
DR Orphanet; 251579; Giant cell glioblastoma.
DR Orphanet; 251576; Gliosarcoma.
DR PharmGKB; PA162402917; -.
DR VEuPathDB; HostDB:ENSG00000154997; -.
DR eggNOG; KOG3859; Eukaryota.
DR GeneTree; ENSGT00940000161752; -.
DR HOGENOM; CLU_017718_8_1_1; -.
DR InParanoid; Q6ZU15; -.
DR OMA; THTWHYE; -.
DR OrthoDB; 845354at2759; -.
DR PhylomeDB; Q6ZU15; -.
DR TreeFam; TF101080; -.
DR PathwayCommons; Q6ZU15; -.
DR SignaLink; Q6ZU15; -.
DR BioGRID-ORCS; 346288; 10 hits in 976 CRISPR screens.
DR ChiTaRS; SEPT14; human.
DR GenomeRNAi; 346288; -.
DR Pharos; Q6ZU15; Tbio.
DR PRO; PR:Q6ZU15; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q6ZU15; protein.
DR Bgee; ENSG00000154997; Expressed in right testis and 99 other tissues.
DR GO; GO:0001669; C:acrosomal vesicle; IDA:UniProtKB.
DR GO; GO:0030424; C:axon; ISS:UniProtKB.
DR GO; GO:0032153; C:cell division site; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005856; C:cytoskeleton; IDA:UniProtKB.
DR GO; GO:0030425; C:dendrite; ISS:UniProtKB.
DR GO; GO:0015630; C:microtubule cytoskeleton; IBA:GO_Central.
DR GO; GO:0043204; C:perikaryon; ISS:UniProtKB.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; ISS:UniProtKB.
DR GO; GO:0031105; C:septin complex; IBA:GO_Central.
DR GO; GO:0005940; C:septin ring; IBA:GO_Central.
DR GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
DR GO; GO:0003924; F:GTPase activity; IBA:GO_Central.
DR GO; GO:0060090; F:molecular adaptor activity; IBA:GO_Central.
DR GO; GO:0061640; P:cytoskeleton-dependent cytokinesis; IBA:GO_Central.
DR GO; GO:0001764; P:neuron migration; ISS:UniProtKB.
DR GO; GO:0008104; P:protein localization; IBA:GO_Central.
DR GO; GO:1905719; P:protein localization to perinuclear region of cytoplasm; IMP:UniProtKB.
DR GO; GO:0007286; P:spermatid development; IMP:UniProtKB.
DR CDD; cd01850; CDC_Septin; 1.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR030379; G_SEPTIN_dom.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR016491; Septin.
DR Pfam; PF00735; Septin; 1.
DR PIRSF; PIRSF006698; Septin; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS51719; G_SEPTIN; 1.
PE 1: Evidence at protein level;
KW Cell cycle; Cell division; Cell projection; Coiled coil; Cytoplasm;
KW Cytoplasmic vesicle; Cytoskeleton; GTP-binding; Nucleotide-binding;
KW Reference proteome.
FT CHAIN 1..432
FT /note="Septin-14"
FT /id="PRO_0000294425"
FT DOMAIN 49..315
FT /note="Septin-type G"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01056"
FT REGION 59..66
FT /note="G1 motif"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01056"
FT REGION 111..114
FT /note="G3 motif"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01056"
FT REGION 194..197
FT /note="G4 motif"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01056"
FT REGION 369..432
FT /note="Required for interaction with SEPTIN4. Required for
FT migration of cortical neurons during corticogenesis"
FT /evidence="ECO:0000250|UniProtKB:Q9DA97"
FT COILED 332..412
FT /evidence="ECO:0000255"
FT BINDING 59..66
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT BINDING 114
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT BINDING 195..203
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT BINDING 249
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT BINDING 264
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT VARIANT 123
FT /note="A -> T (found in patients with teratozoospermia;
FT unknown pathological significance; sperm heads are
FT malformed and contain vacuoles; chromatin packaging and
FT structure is abnormal with an increase in fragmented DNA;
FT decreases sperm filamentous structure formation; loss of
FT SEPTIN14 and ACTN4 localization to cell filament
FT structures; no effect on interaction with ACTN4;
FT dbSNP:rs1417582759)"
FT /evidence="ECO:0000269|PubMed:31450874,
FT ECO:0000269|PubMed:33228246"
FT /id="VAR_085117"
FT VARIANT 333
FT /note="I -> T (found in patients with teratozoospermia;
FT unknown pathological significance; sperm heads are
FT malformed and contain vacuoles; chromatin packaging and
FT structure is abnormal with an increase in fragmented DNA;
FT decreases sperm filamentous structure formation; loss of
FT SEPTIN14 and ACTN4 localization to cell filament
FT structures; no effect on interaction with ACTN4;
FT dbSNP:rs185254020)"
FT /evidence="ECO:0000269|PubMed:31450874,
FT ECO:0000269|PubMed:33228246"
FT /id="VAR_085118"
SQ SEQUENCE 432 AA; 50025 MW; AFFF9A953F1FC637 CRC64;
MAERTMAMPT QIPADGDTQK ENNIRCLTTI GHFGFECLPN QLVSRSIRQG FTFNILCVGE
TGIGKSTLID TLFNTNLKDN KSSHFYSNVG LQIQTYELQE SNVQLKLTVV ETVGYGDQID
KEASYQPIVD YIDAQFEAYL QEELKIKRSL FEYHDSRVHV CLYFISPTGH SLKSLDLLTM
KNLDSKVNII PLIAKADTIS KNDLQTFKNK IMSELISNGI QIYQLPTDEE TAAQANSSVS
GLLPFAVVGS TDEVKVGKRM VRGRHYPWGV LQVENENHCD FVKLRDMLLC TNMENLKEKT
HTQHYECYRY QKLQKMGFTD VGPNNQPVSF QEIFEAKRQE FYDQCQREEE ELKQRFMQRV
KEKEATFKEA EKELQDKFEH LKMIQQEEIR KLEEEKKQLE GEIIDFYKMK AASEALQTQL
STDTKKDKHR KK
