H1-9P (H1.9 linker histone, pseudogene)

Gene

• Entrez ID: 373861
• Gene name: H1.9 linker histone, pseudogene
• Gene symbol: H1-9P
• Synonyms (NCBI Gene): H1-9, H1.9, HILS1
• Chromosome: 17
• Chromosome location: 17q21.33
• Summary: This locus is the ortholog of a mouse protein-coding gene that displays characteristics of a linker histone and is expressed in nuclei of late maturing spermatids. The human locus is expressed; however, the open reading frame has been disrupted by a frame

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000786	Component	Nucleosome	IDA	12920187
GO:0001673	Component	Male germ cell nucleus	IDA	12920187
GO:0003676	Function	Nucleic acid binding	IDA	12920187
GO:0003690	Function	Double-stranded DNA binding	IBA	21873635
GO:0005634	Component	Nucleus	IBA	21873635
GO:0006334	Process	Nucleosome assembly	IEA
GO:0006338	Process	Chromatin remodeling	NAS	12920187
GO:0006342	Process	Chromatin silencing	IDA	12920187
GO:0006355	Process	Regulation of transcription, DNA-templated	NAS	12920187
GO:0007275	Process	Multicellular organism development	IEA
GO:0007281	Process	Germ cell development	IDA	14636221
GO:0007283	Process	Spermatogenesis	IDA	12920187
GO:0016584	Process	Nucleosome positioning	IBA	21873635
GO:0030261	Process	Chromosome condensation	IBA	21873635
GO:0030261	Process	Chromosome condensation	IDA	12920187
GO:0031492	Function	Nucleosomal DNA binding	IBA	21873635
GO:0031936	Process	Negative regulation of chromatin silencing	IBA	21873635
GO:0042393	Function	Histone binding	IDA	12920187
GO:0045910	Process	Negative regulation of DNA recombination	IBA	21873635

Other IDs

• MIM: 608101
• HGNC: 30616
• e!Ensembl: ENSG00000253730

Protein

• UniProt ID: P60008
• Protein name: Putative histone H1.9 (H1.9 linker histone pseudogene) (Putative spermatid-specific linker histone H1-like protein)
• Protein function: DNA-binding protein that may be implicated in chromatin remodeling and/or transcriptional regulation during spermiogenesis, the process of spermatid maturation into spermatozoa.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00538	Linker_histone	114 → 187	linker histone H1 and H5 family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed exclusively in the testis. {ECO:0000269|PubMed:12920187}.
• Sequence:

  MLHASTIWHLRSTPPRRKQWGHCDPHRILVASEVTTEITSPTPAPRAQVCGGQPWVTVLD
  PLSGHTGREAERHFATVSISAVELKYCHGWRPAGQRVPSKTATGQRTCAKPCQKPSTSKV
  ILRAVADKGTCKYVSLATLKKAVSTTGYDMARNAYHFKRVLKGLVDKGSAGSFTLGKKQA
  SKSKLKVKRQRQQRWRSGQRPFGQHRSLLGSKQGHKRLIKGVRRVAKCHCN

• Sequence length: 231

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Limb-girdle muscular dystrophy	Alpha-Sarcoglycanopathies	rs2137534216, rs104894422, rs762777463, rs104894423, rs137854524, rs137854521, rs137854523, rs137854529, rs398123555, rs119463996, rs587777814, rs119463992, rs267606971, rs267606967, rs28941782, rs119462982, rs193919335, rs28940869, rs193919336, rs28937900, rs587777823, rs104894682, rs28937901, rs28937903, rs28937905, rs104894689, rs104894691, rs104894692, rs121908110, rs104894655, rs786205076, rs121908955, rs786200896, rs786205082, rs121908956, rs745891180, rs121908957, rs28937581, rs121908958, rs121908959, rs121908960, rs121908961, rs786205083, rs121908963, rs786200897, rs786200898, rs727503909, rs1369919728, rs121909295, rs121909296, rs121909297, rs267607045, rs28936383, rs104893868, rs751427729, rs1578125670, rs104893869, rs104893870, rs104893871, rs137852621, rs137852622, rs28933693, rs397514451, rs137852623, rs281864927, rs281864928, rs121913572, rs80338802, rs121434544, rs121434545, rs121434546, rs121434547, rs1555423217, rs267606703, rs80338803, rs80338800, rs121434548, rs786205084, rs80338801, rs864309673, rs387907046, rs387907047, rs149278319, rs387907150, rs387907298, rs202247791, rs202247790, rs281864930, rs281865464, rs137854528, rs397514501, rs397515400, rs150518260, rs397517547, rs397517643, rs397517921, rs386834012, rs138642840, rs386834019, rs397509417, rs397509418, rs397509422, rs397509424, rs397509425, rs397509426, rs202160208, rs142336618, rs199922550, rs371675217, rs398123098, rs201736037, rs398123143, rs201892814, rs398123146, rs149095128, rs398123149, rs398123150, rs398123262, rs398123373, rs398123763, rs398123764, rs398123765, rs202044973, rs398123767, rs398123768, rs398123770, rs377735262, rs140108514, rs398123781, rs398123782, rs398123786, rs398123787, rs398123789, rs398123794, rs398123796, rs398123797, rs398123799, rs373585652, rs398123800, rs398123802, rs398123807, rs201869739, rs398124395, rs199501657, rs398124625, rs587780289, rs587780290, rs587780423, rs587777423, rs587777430, rs587777431, rs137854526, rs137854527, rs45495192, rs587777669, rs587777797, rs587777798, rs587784483, rs727504535, rs727503422, rs727503839, rs727503911, rs141656719, rs143570936, rs727503837, rs727503910, rs727503915, rs757888349, rs768814872, rs786204786, rs200923373, rs796065318, rs794726871, rs796065319, rs557164942, rs794727158, rs762471207, rs797044667, rs794727318, rs201049092, rs794727350, rs778768583, rs756328339, rs794727544, rs370874727, rs794727636, rs201725369, rs766016391, rs794727697, rs794727745, rs760608643, rs794727851, rs141497053, rs794729178, rs797045106, rs797045427, rs766341386, rs779987458, rs1801505, rs376107921, rs863224933, rs863225020, rs863225019, rs746873768, rs369607332, rs863225021, rs372221490, rs566415362, rs774048743, rs863224958, rs863224963, rs863224964, rs863224965, rs863224966, rs374665929, rs863224956, rs863224957, rs863224959, rs863224960, rs863224961, rs863224962, rs758647756, rs869025337, rs869025562, rs779129892, rs869312122, rs543860009, rs150877497, rs878854367, rs878854364, rs869320700, rs869320701, rs759982570, rs869320702, rs142908436, rs875989850, rs875989851, rs1553775212, rs875989949, rs876657664, rs878854324, rs879255612, rs746315830, rs886039573, rs747349942, rs886039597, rs886041052, rs886041053, rs199870606, rs761211705, rs776043976, rs886041335, rs886041387, rs1555421871, rs886042091, rs886042093, rs547818652, rs886042108, rs886042110, rs749099493, rs200646556, rs80338804, rs761897806, rs149914792, rs543163491, rs886042379, rs886042389, rs868791726, rs369552114, rs886042418, rs886042439, rs886042440, rs528417986, rs764459544, rs151317754, rs886042478, rs886042503, rs886042504, rs886042506, rs139836397, rs770617208, rs886042540, rs886042546, rs886042557, rs886042573, rs886042578, rs886042584, rs768090444, rs886042617, rs753861836, rs886042641, rs200502077, rs886042749, rs886042757, rs777323132, rs753360208, rs886042827, rs202218890, rs752492870, rs773827877, rs886042895, rs138945081, rs149827237, rs886042951, rs776059672, rs886042964, rs780264754, rs779701414, rs769721856, rs886043031, rs142073798, rs770894443, rs777483913, rs760205277, rs368970223, rs886043221, rs281865480, rs372210292, rs746243052, rs886043392, rs746935735, rs886043432, rs778065845, rs781013226, rs756339648, rs886043706, rs886043752, rs758775001, rs886043860, rs773001194, rs747557404, rs886043900, rs886043962, rs886043964, rs886043966, rs886044004, rs747719953, rs886044052, rs775130589, rs886044083, rs199806879, rs886044183, rs766433603, rs147764579, rs781760379, rs757481230, rs886044377, rs886044379, rs886044381, rs886044411, rs747289205, rs886044422, rs752848213, rs886044475, rs200206447, rs753650776, rs886044527, rs761257703, rs886044688, rs1057516051, rs1057516515, rs780596734, rs1057517051, rs1057516360, rs747809412, rs1057517064, rs1057517205, rs773884973, rs1057517107, rs1057516300, rs1057516650, rs1057517142, rs763986788, rs1057516242, rs1057516888, rs1057516664, rs1057517377, rs1057516548, rs1057516729, rs550944082, rs1057519132, rs150331292, rs1057521141, rs754415994, rs1057524468, rs375159973, rs1554094947, rs1064794020, rs1064797040, rs1064793620, rs144356125, rs1085307995, rs1085307534, rs1131692158, rs750195040, rs1555568335, rs1555568318, rs1555420475, rs199954546, rs1555606976, rs1403946332, rs1553482872, rs1553543506, rs1554269966, rs1555420075, rs769688710, rs778568339, rs769785004, rs1554009901, rs1186858080, rs140403642, rs1553940687, rs775458201, rs751427686, rs1553940274, rs1380525804, rs1168346560, rs1555248000, rs200379491, rs752640127, rs200166783, rs1327595249, rs1290836394, rs753811189, rs1023002894, rs1553420848, rs1553555585, rs369784333, rs901764287, rs1285082850, rs766156798, rs1555568518, rs1573744795, rs1555568264, rs766334893, rs1555423060, rs138254713, rs1342189589, rs1555421523, rs747685252, rs1555421524, rs1555420462, rs142004418, rs1247934219, rs756118312, rs1553556116, rs1553522133, rs555514820, rs147774793, rs1553416025, rs776472879, rs1274808359, rs1555420634, rs112500642, rs188150039, rs1446214240, rs1366387924, rs1220674950, rs1009131948, rs1250461669, rs1555606959, rs201518227, rs1553521119, rs1013015106, rs773386253, rs1554007706, rs1553939675, rs1448040082, rs561719071, rs745967703, rs1275289254, rs1555420642, rs1301397800, rs770905160, rs200916654, rs758058910, rs773736505, rs1554930314, rs1259378167, rs1553495983, rs1278864604, rs1553521017, rs1553522730, rs779969348, rs139258703, rs1553376558, rs1553381945, rs1474151297, rs766891289, rs1553531682, rs766936914, rs199543257, rs1420930684, rs1553376691, rs757917335, rs1553408378, rs751473506, rs1451269647, rs1459713589, rs1553522104, rs1553522751, rs768546511, rs1553535902, rs1236367931, rs1553541329, rs1380642629, rs778092738, rs1213965862, rs1553412826, rs1553422709, rs1553422723, rs1553518087, rs1553536007, rs1553537332, rs1553542142, rs750028300, rs763674597, rs1553377764, rs1553414413, rs1553415211, rs909564120, rs771257070, rs1264362642, rs1267810339, rs1553940262, rs1553940079, rs762652676, rs1553940661, rs1553940663, rs1553940957, rs762114570, rs1555234810, rs1555247973, rs780348174, rs1555234799, rs913248720, rs1555248289, rs1199421806, rs1555240119, rs758078849, rs1555245353, rs1555420468, rs1555420507, rs1345121557, rs1555421263, rs1555422293, rs1555422298, rs1555422832, rs1555423021, rs1555417271, rs1555420302, rs750083132, rs1555420765, rs746075428, rs1555422954, rs760919949, rs764086484, rs1555420647, rs1555421271, rs1555421847, rs1334369407, rs1555423015, rs768374736, rs1555423046, rs1555417257, rs1555417321, rs1555420083, rs1459288402, rs1555421280, rs1555421293, rs1555421842, rs1555421854, rs1293496023, rs767739787, rs1555422839, rs1555422847, rs1555422856, rs777636094, rs1555423027, rs766917640, rs1555423146, rs1447774727, rs1555423222, rs1412537279, rs1555568775, rs1555569339, rs903823830, rs1555568965, rs1555569342, rs763372958, rs1555738245, rs1555738502, rs1555738568, rs1555738651, rs752731569, rs1555738764, rs765885747, rs1555738149, rs1555738883, rs1555738201, rs1555738753, rs587780334, rs1555739041, rs748087383, rs768606230, rs1555568325, rs1555568396, rs1555568876, rs770711331, rs1191737604, rs1555738823, rs1173430388, rs1555738204, rs1555738311, rs1555738456, rs1555738686, rs1555738675, rs1483781400, rs754403441, rs1555739280, rs1555739333, rs1553416039, rs1559697515, rs1554094927, rs1566965806, rs754761503, rs1162942997, rs1567739339, rs1566975163, rs766400853, rs1562273395, rs1562497781, rs1562200866, rs1559446852, rs1563083759, rs1559177278, rs534484592, rs1567739228, rs1598277713, rs1566983844, rs769873428, rs1564930625, rs1567739735, rs1567741398, rs1432706111, rs756689063, rs1558708492, rs1566011034, rs1387802849, rs760915007, rs1559267059, rs767120669, rs1180079162, rs762946781, rs1566984441, rs1559053603, rs1558771348, rs1560034617, rs569565392, rs1483190866, rs750976634, rs750443041, rs1456182703, rs1559109621, rs1562137622, rs1562133291, rs796206315, rs1332603843, rs763586263, rs191912891, rs761935462, rs1558783870, rs777924443, rs1558613592, rs1583845651, rs1574340607, rs1573704236, rs1574016452, rs778326858, rs887577241, rs1337417322, rs1574097294, rs758993965, rs1574354515, rs1573060017, rs1397263011, rs1262459682, rs1595821204, rs781723572, rs1595838545, rs1595845459, rs1595846922, rs1598265248, rs748798133, rs1180978840, rs1571735403, rs1595826673, rs1583591577, rs1573100371, rs778539477, rs1573671276, rs1573094789, rs866823474, rs1599937963, rs1593197637, rs1364860348, rs754889480, rs1574277160, rs1573138336, rs746844753, rs1577824925, rs936193061, rs1578126090, rs1185229314, rs1392196900, rs776988725, rs11581962, rs1595837172, rs1595794433, rs1575185742, rs1575285509, rs557526069, rs753711667, rs1574264671, rs758107024, rs1574341049, rs1572994572, rs1573009747, rs1590300702, rs1233836740, rs1593216248, rs1229291913, rs1595828703, rs1555421532, rs1595844413, rs1595847257, rs778851652, rs1200988060, rs1574817395, rs575938861, rs1648544786, rs971134497, rs762398889, rs1395588065, rs1737457235, rs1776950897, rs1351510337, rs1881219252, rs1011397929, rs1325816562, rs2052593499, rs2053401167, rs2053442769, rs1566975090, rs763719290, rs2053485642, rs2053509916, rs1409503203, rs774048414, rs2054186817, rs1457010016, rs1904771410, rs1904986620, rs1905103030, rs1905167458, rs1905254738, rs1905256830, rs760989961, rs905322985, rs756798409, rs1883152345, rs113109898, rs1437210856, rs1311819000, rs1054547392, rs150877512, rs1688921542