LOCUS       NM_006118               1109 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript
            variant 1, mRNA.
ACCESSION   NM_006118
VERSION     NM_006118.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1109)
  AUTHORS   Zhan,W., Li,Z., Zhang,J., Liu,Y., Liu,G., Li,B., Shen,R., Jiang,Y.,
            Shang,W., Gao,S., Wu,H., Wang,Y., Chen,W. and Wang,Z.
  TITLE     Energy stress promotes P-bodies formation via lysine-63-linked
            polyubiquitination of HAX1
  JOURNAL   EMBO J 43 (13), 2759-2788 (2024)
   PUBMED   38769438
  REMARK    GeneRIF: Energy stress promotes P-bodies formation via
            lysine-63-linked polyubiquitination of HAX1.
REFERENCE   2  (bases 1 to 1109)
  AUTHORS   Jin,H., Huang,X., Pan,Q., Ma,N., Xie,X., Wei,Y., Yu,F., Wen,W.,
            Zhang,B., Zhang,P., Chen,X., Wang,J., Liu,R.Y., Lin,J., Meng,X. and
            Lee,M.H.
  TITLE     The EIF3H-HAX1 axis increases RAF-MEK-ERK signaling activity to
            promote colorectal cancer progression
  JOURNAL   Nat Commun 15 (1), 2551 (2024)
   PUBMED   38514606
  REMARK    GeneRIF: The EIF3H-HAX1 axis increases RAF-MEK-ERK signaling
            activity to promote colorectal cancer progression.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1109)
  AUTHORS   Pisani,C., Onori,A., Gabanella,F., Iezzi,S., De Angelis,R.,
            Fanciulli,M., Colizza,A., de Vincentiis,M., Di Certo,M.G.,
            Passananti,C. and Corbi,N.
  TITLE     HAX1 is a novel binding partner of Che-1/AATF. Implications in
            oxidative stress cell response
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (1), 119587 (2024)
   PUBMED   37742722
  REMARK    GeneRIF: HAX1 is a novel binding partner of Che-1/AATF.
            Implications in oxidative stress cell response.
REFERENCE   4  (bases 1 to 1109)
  AUTHORS   Hezinger,L., Bauer,S., Ellwanger,K., Piotrowsky,A., Biber,F.,
            Venturelli,S. and Kufer,T.A.
  TITLE     NOD1 cooperates with HAX-1 to promote cell migration in a RIPK2-
            and NF-kB-independent manner
  JOURNAL   FEBS J 290 (22), 5295-5312 (2023)
   PUBMED   37488967
  REMARK    GeneRIF: NOD1 cooperates with HAX-1 to promote cell migration in a
            RIPK2- and NF-kB-independent manner.
REFERENCE   5  (bases 1 to 1109)
  AUTHORS   Pogozhykh,D., Yilmaz Karapinar,D., Klimiankou,M., Gerschmann,N.,
            Ebetsberger-Dachs,G., Palmblad,J., Carlsson,G., Masmas,T.,
            Kinsey,S., Bartels,M., Mellor-Heineke,S., Welte,K., Skokowa,J. and
            Zeidler,C.
  TITLE     HAX1-related congenital neutropenia: Long-term observation in
            paediatric and adult patients enrolled in the European branch of
            the Severe Chronic Neutropenia International Registry (SCNIR)
  JOURNAL   Br J Haematol 202 (2), 393-411 (2023)
   PUBMED   37193639
  REMARK    GeneRIF: HAX1-related congenital neutropenia: Long-term observation
            in paediatric and adult patients enrolled in the European branch of
            the Severe Chronic Neutropenia International Registry (SCNIR).
REFERENCE   6  (bases 1 to 1109)
  AUTHORS   Ortiz,D.F., Moseley,J., Calderon,G., Swift,A.L., Li,S. and
            Arias,I.M.
  TITLE     Identification of HAX-1 as a protein that binds bile salt export
            protein and regulates its abundance in the apical membrane of
            Madin-Darby canine kidney cells
  JOURNAL   J Biol Chem 279 (31), 32761-32770 (2004)
   PUBMED   15159385
  REMARK    GeneRIF: HAX-1 binds bile salt export protein (BSEP), cortactin,
            MDR1, and MDR2. HAX-1 and cortactin regulate BSEP abundance in the
            apical membrane of cells.
REFERENCE   7  (bases 1 to 1109)
  AUTHORS   Mirmohammadsadegh,A., Tartler,U., Michel,G., Baer,A., Walz,M.,
            Wolf,R., Ruzicka,T. and Hengge,U.R.
  TITLE     HAX-1, identified by differential display reverse transcription
            polymerase chain reaction, is overexpressed in lesional psoriasis
  JOURNAL   J Invest Dermatol 120 (6), 1045-1051 (2003)
   PUBMED   12787133
  REMARK    GeneRIF: In psoriasis, the epidermal differentiation could be
            disturbed due to the increased expression of HAX-1 and hence a
            prolonged resistance to terminal differentiation
REFERENCE   8  (bases 1 to 1109)
  AUTHORS   Yin,H., Morioka,H., Towle,C.A., Vidal,M., Watanabe,T. and
            Weissbach,L.
  TITLE     Evidence that HAX-1 is an interleukin-1 alpha N-terminal binding
            protein
  JOURNAL   Cytokine 15 (3), 122-137 (2001)
   PUBMED   11554782
REFERENCE   9  (bases 1 to 1109)
  AUTHORS   Gallagher,A.R., Cedzich,A., Gretz,N., Somlo,S. and Witzgall,R.
  TITLE     The polycystic kidney disease protein PKD2 interacts with Hax-1, a
            protein associated with the actin cytoskeleton
  JOURNAL   Proc Natl Acad Sci U S A 97 (8), 4017-4022 (2000)
   PUBMED   10760273
REFERENCE   10 (bases 1 to 1109)
  AUTHORS   Suzuki,Y., Demoliere,C., Kitamura,D., Takeshita,H., Deuschle,U. and
            Watanabe,T.
  TITLE     HAX-1, a novel intracellular protein, localized on mitochondria,
            directly associates with HS1, a substrate of Src family tyrosine
            kinases
  JOURNAL   J Immunol 158 (6), 2736-2744 (1997)
   PUBMED   9058808
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC005240.1 and U68566.1.
            
            On Aug 31, 2019 this sequence version replaced NM_006118.3.
            
            Summary: The protein encoded by this gene is known to associate
            with hematopoietic cell-specific Lyn substrate 1, a substrate of
            Src family tyrosine kinases. It also interacts with the product of
            the polycystic kidney disease 2 gene, mutations in which are
            associated with autosomal-dominant polycystic kidney disease, and
            with the F-actin-binding protein, cortactin. It was earlier thought
            that this gene product is mainly localized in the mitochondria,
            however, recent studies indicate it to be localized in the cell
            body. Mutations in this gene result in autosomal recessive severe
            congenital neutropenia, also known as Kostmann disease. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC016730.1, U68566.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328703.12/ ENSP00000329002.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-253               BC005240.1         119-371
            254-695             U68566.1           320-761
            696-1106            BC005240.1         814-1224
            1107-1109           U68566.1           1173-1175
FEATURES             Location/Qualifiers
     source          1..1109
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..1109
                     /gene="HAX1"
                     /gene_synonym="HCLSBP1; HS1BP1; SCN3"
                     /note="HCLS1 associated protein X-1"
                     /db_xref="GeneID:10456"
                     /db_xref="HGNC:HGNC:16915"
                     /db_xref="MIM:605998"
     exon            1..148
                     /gene="HAX1"
                     /gene_synonym="HCLSBP1; HS1BP1; SCN3"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..935
                     /gene="HAX1"
                     /gene_synonym="HCLSBP1; HS1BP1; SCN3"
                     /note="isoform a is encoded by transcript variant 1; HS1
                     binding protein; HCLS1 (and PKD2) associated protein;
                     HAX-1; HSP1BP-1; HS1-binding protein 1; HS1-associating
                     protein X-1"
                     /codon_start=1
                     /product="HCLS1-associated protein X-1 isoform a"
                     /protein_id="NP_006109.2"
                     /db_xref="CCDS:CCDS1064.1"
                     /db_xref="GeneID:10456"
                     /db_xref="HGNC:HGNC:16915"
                     /db_xref="MIM:605998"
                     /translation="MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSW
                     GRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPS
                     HPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDW
                     GSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITK
                     PDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWF
                     RSR"
     exon            149..411
                     /gene="HAX1"
                     /gene_synonym="HCLSBP1; HS1BP1; SCN3"
                     /inference="alignment:Splign:2.1.0"
     exon            412..599
                     /gene="HAX1"
                     /gene_synonym="HCLSBP1; HS1BP1; SCN3"
                     /inference="alignment:Splign:2.1.0"
     exon            600..651
                     /gene="HAX1"
                     /gene_synonym="HCLSBP1; HS1BP1; SCN3"
                     /inference="alignment:Splign:2.1.0"
     exon            652..758
                     /gene="HAX1"
                     /gene_synonym="HCLSBP1; HS1BP1; SCN3"
                     /inference="alignment:Splign:2.1.0"
     exon            759..849
                     /gene="HAX1"
                     /gene_synonym="HCLSBP1; HS1BP1; SCN3"
                     /inference="alignment:Splign:2.1.0"
     exon            850..1109
                     /gene="HAX1"
                     /gene_synonym="HCLSBP1; HS1BP1; SCN3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1087..1092
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAX1"
                     /gene_synonym="HCLSBP1; HS1BP1; SCN3"
                     /note="hexamer: AATAAA"
     polyA_site      1109
                     /gene="HAX1"
                     /gene_synonym="HCLSBP1; HS1BP1; SCN3"
                     /note="major polyA site"
ORIGIN      
        1 gacgcctcgc tcaatttctc acagggctgc gcaggtttcc cccgtctgcg aatggaccac
       61 tggaggggtt caaaggttcg cgtcccagta cgggaatgag cctctttgat ctcttccggg
      121 gctttttcgg ctttcctgga cctcggagcc acagagatcc cttttttgga gggatgactc
      181 gagatgaaga tgatgatgag gaagaagaag aagaaggggg ctcatggggc cgtgggaacc
      241 caaggttcca tagtcctcag cacccccctg aggaatttgg cttcggcttc agcttcagcc
      301 caggaggagg gatacgtttc cacgataact tcggctttga tgacctagta cgagatttca
      361 atagcatctt cagcgatatg ggggcctgga ccttgccttc ccatcctcct gaacttccag
      421 gtcctgagtc agagacacct ggtgagagac tacgggaggg acagacactt cgggactcaa
      481 tgcttaagta tccagatagt caccagccca ggatctttgg gggggtcttg gagagtgatg
      541 caagaagtga atccccccaa ccagcaccag actggggctc ccagaggcca tttcataggt
      601 ttgatgatgt atggcctatg gacccccatc ctagaaccag agaggacaat gatcttgatt
      661 cccaggtttc ccaggagggt cttggcccgg ttctacagcc ccagcccaaa tcctatttca
      721 agagcatctc tgtgaccaag atcactaaac cagatgggat agtggaggag cgccggactg
      781 tggtggacag tgagggccgg acagagacta cagtaacccg acacgaagca gatagcagtc
      841 ctaggggtga tccagaatca ccaagacctc cagccctgga tgatgccttt tccatcctgg
      901 acttattcct gggacgttgg ttccggtccc ggtagccttg ttaaccctca gaggccttca
      961 agtcctttcc acctctcacc cattgcccac cattaataag cttagcttct cttgccacct
     1021 caggggcttg gatatgtgga atagtgaact ggggccatgt cagtttgtca ctcacccaaa
     1081 ctgaccaata aaacctttat ttatgctaa
//
